 Patent Application Title |
Patent App Num. |
Date |
| Determining variants in genome of a heterogeneous sample | 20130110407 | 20130502 |
 After DNA fragments are sequenced and mapped to a reference, various hypotheses for the sequences in a variant region can be scored to find which sequence hypotheses are more likely. A hypothesis can include a specific variable fraction for the plurality of alleles that comprise the sequence hypothesis in the region. A likelihood of each hypothesis can be determined using a probability that accounts for the fraction of the alleles specified in the respective sequence hypothesis. Thus, other hypotheses besides standard homozygous and equal heterozygous (i.e., one chromosome with A and one with B in a cell) can be explored by explicitly including the variable fractions of the alleles as a parameter in the optimization. Also, a variant score can be determined for a variant relative... |
| Lolium multiflorum line inducing genome loss | 20130097724 | 20130418 |
 Dihaploid homozygous Fescue species may be produced by interspecific hybridization of Fescue with novel ryegrass, Lolium multiflorus, lines, that induce genome loss. Plants that are dihaploid homozygous Lolium and amphidiploids are also produced.
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| Lolium multiflorum line inducing genome loss | 20130097736 | 20130418 |
 Dihaploid homozygous Fescue species may be produced by interspecific hybridization of Fescue with novel ryegrass, Lolium multiflorum, lines, that induce genome loss. Plants that are dihaploid homozygous Lolium and amphidiploids are also produced.
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| Nrip knockout mice and uses thereof | 20130081148 | 20130328 |
 The present invention directs to a transgenic NRIP knockout mouse, the genome of which is manipulated to comprise a disruption of a nuclear receptor interaction protein (NRIP) gene, wherein the NRIP gene is disrupted by deletion of exon 2, the mouse exhibits a phenotype comprising abnormal muscular function. The present invention also directs to a method for making a transgenic NRIP knockout mouse whose genome comprises a homozygous disruption of the NRIP gene, the mouse exhibits abnormal muscular function.
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| Inbred c57bl/6 es cells with high developmental capacity | 20130074200 | 20130321 |
 Described herein are inbred B6 ES cell lines that exhibit high developmental capacities and have a number of advantages over ES cell lines already available. First, they can be used for gene targeting and have a high percentage of germline transmission when injected into diploid host blastocysts (˜50-80%). Second, these ES cell lines can successfully be used to generate live pups by tetraploid blastocyst complementation, producing a high percentage (15-20%) of mice that are entirely inbred B6 ES cell derived. Third, these ES cells lines can be used to rapidly generate mice that are homozygous for a gene of interest. These advantages indicate that the inbred B6 ES cells provided here facilitate the rapid generation of inbred B6 mouse models in a cost-effective and efficient manner.
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| Totipotent, nearly totipotent or pluripotent mammalian cells homozygous or hemizygous for one or more histocompatibility antigens genes | 20130053278 | 20130228 |
| The present invention relates to totipotent, nearly totipotent and pluripotent stem cells that are hemizygous or homozygous for MHC antigens and methods of making and using them. These cells are useful for reduced immunogenicity during transplantation and cell therapy. The cells of the present invention may be assembled into a bank with reduced complexity in the MHC genes.
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| Integrated analyses of breast and colorectal cancers | 20130035404 | 20130207 |
| Genome-wide analysis of copy number changes in breast and colorectal tumors used approaches that can reliably detect homozygous deletions and amplifications. The number of genes altered by major copy number changes—deletion of all copies or amplification of at least twelve copies per cell—averaged thirteen per tumor. These data were integrated with previous mutation analyses of the Reference Sequence genes in these same tumor types to identify genes and cellular pathways affected by both copy number changes and point alterations. Pathways enriched for genetic alterations include those controlling cell adhesion, intracellular signaling, DNA topological change, and cell cycle control. These analyses provide an integrated view of copy number and sequencing alterations on a genome-wide scale and identify genes and pathways that are useful for cancer diagnosis and... |
| Methods for treatment with bucindolol based on genetic targeting | 20120289573 | 20121115 |
| The present invention concerns the use of methods for evaluating bucindolol treatment for a patient, particularly one with heart failure. It concerns methods for determining whether to administer or prescribe bucindolol to a patient based on whether the patient is homozygous for the Arg 389 polymorphism in the β1-adrenergic receptor (AR).
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| Hybrid seed potato breeding | 20120284852 | 20121108 |
| The present invention relates to diploid, fertile, self-compatible and essentially homozygous potato lines, wherein said lines comprise an agronomically desirable trait such as vigour. The invention further relates to methods for producing such plants and to hybrid seeds obtained by crossing such homozygous potato lines and to potato plants grown from said see.
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| Combination of protein forms for hornfly vaccination | 20120263742 | 20121018 |
| Thrombostasin is an anti-clotting protein found in saliva of Haematobia irritans. Disclosed herein are studies testing blood uptake of horn flies feeding on cattle which confirm the association of ts genotype with blood uptake of horn flies. Blood uptake volumes of homozygous ts10 horn flies were lower than those of other ts genotypes when fed on control cattle. Cattle vaccinated with recombinant protein isoforms rTS9 or rTB8 resisted horn fly feeding by yielding lower blood volumes compared to flies feeding on control cattle. The impact of vaccination varied by ts genotype of flies. Cattle vaccinated with isoforms rTS9 resisted flies of ts2, ts9, and tb8 genotype. Vaccination with isoforms rTB8 produced resistance to ts8, ts9 and tb8 genotype flies. Horn flies of genotype ts10 were not... |
| Methods for identifying dna copy number changes | 20120214704 | 20120823 |
| Methods of identifying allele-specific changes in genomic DNA copy number are disclosed. Methods for identifying homozygous deletions and genetic amplifications are disclosed. An array of probes designed to detect presence or absence of a plurality of different sequences is also disclosed. The probes are designed to hybridize to sequences that are predicted to be present in a reduced complexity sample. The methods may be used to detect copy number changes in cancerous tissue compared to normal tissue. The methods may be used to diagnose cancer and other diseases associated with chromosomal anomalies.
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| Inbred c57bl/6 es cells with high developmental capacity | 20120192299 | 20120726 |
| Described herein are inbred B6 ES cell lines that exhibit high developmental capacities and have a number of advantages over ES cell lines already available. First, they can be used for gene targeting and have a high percentage of germline transmission when injected into diploid host blastocysts (˜50-80%). Second, these ES cell lines can successfully be used to generate live pups by tetraploid blastocyst complementation, producing a high percentage (15-20%) of mice that are entirely inbred B6 ES cell derived. Third, these ES cells lines can be used to rapidly generate mice that are homozygous for a gene of interest. These advantages indicate that the inbred B6 ES cells provided here facilitate the rapid generation of inbred B6 mouse models in a cost-effective and efficient manner.
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| Methods for identifying genomic deletions | 20120129170 | 20120524 |
| The genomic locus responsible for Van Buchem's disease is narrowed to an approximately 92 kb region of human chromosome 17 at 17q21. Individuals afflicted with or carriers of Van Buchem's disease exhibit a 52 kb deletion within this 92 kb region. Methods are provided that permit the differentiation between individuals homozygous for and therefore afflicted with Van Buchem's disease, individuals heterozygous for and therefore carriers of Van Buchem's disease, and individuals who are normal with respect to Van Buchem's disease. Also provided are general methodologies for the detection of a wide variety of large genomic deletions.
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| Genomic polymorphism for predicting therapeutic response | 20120129178 | 20120524 |
| The present invention relates to the use of genomic polymorphism to provide individualized therapeutic regimens to treat patients suffering from diseases such as cancer. The invention discloses methods for determining the efficacy or choice of chemotherapeutic drugs and regimens for use in treating a diseased patient by associating genomic polymorphism with the effectiveness of the drugs or regimens, or by associating genomic polymorphism with the intratumoral expression of a gene whereby the gene expression affects effectiveness of the drugs or regimens. In particular, the present invention provides novel methods for screening therapeutic regimens, which comprise determining a patient's genotype at a tandemly repeated 28 base pair region in the thymidilate synthase (TS) gene's 5′ untranslated region (UTR). Patients homozygous for a triple repeat will be least... |
| Reverse breeding | 20120131688 | 20120524 |
| A method for efficiently producing homozygous organisms from a heterozygous non-human starting organism, comprising providing of a heterozygous starting organism; allowing the starting organism to produce haploid cells; creating homozygous organisms from the haploid cells thus obtained; and selecting the organisms having the desired set of chromosomes, wherein during production of the haploid cells no recombination occurs in order to obtain a limited number of genetically different haploid cells. Recombination can also be prevented or suppressed.
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| Pathways underlying pancreatic tumorigenesis and an hereditary pancreatic cancer gene | 20120115735 | 20120510 |
| There are currently few therapeutic options for patients with pancreatic cancers and new insights into the pathogenesis of this lethal disease are urgently needed. To this end, we performed a comprehensive analysis of the genes altered in 24 pancreatic tumors. First, we determined the sequences of 23,781 transcripts, representing 20,583 protein-encoding genes, in DNA from these tumors. Second, we searched for homozygous deletions and amplifications using microarrays querying ˜one million single nucleotide polymorphisms in each sample. Third, we analyzed the transcriptomes of the same samples using SAGE and next-generation sequencing-by-synthesis technologies. We found that pancreatic cancers contain an average of 63 genetic alterations, of which 49 are point mutations, 8 are homozygous deletions, and 6 are amplifications. Further analyses revealed a core set of 12 regulatory... |
| Method for determination of unknown mutations | 20120116232 | 20120510 |
| The present invention relates to a method of using Raman spectra to identify unknown mutations in a gene, more specifically the filaggrin gene. Specifically, the present invention relates to a method to determine if a person has a homozygous or compound heterozygous mutation in the filaggrin-gene comprising measurement of the presence of tyrosine in the skin. Preferably said measurements are performed by Rama spectrography and on the tsiie of the skin, most preferably on the palm of the hand. Further, when these measurements are taken together with measurements of the NMF content of the skin it, the present invention relates to a method of classifying atopic dermatitis.
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| Egfr and par2 regulation of intestinal permeability | 20120107329 | 20120503 |
| The present invention provides methods for diagnosing and treating an immune-mediated disease, e.g., an autoimmune disease, an allergy or an inflammatory disease. Diagnosis is made by detecting a heterozygous or homozygous genotype of haptoglobin 2 or by detecting and quantifying pre-haptoglobin 2 mRNA or protein. After diagnosis, the disease may be treated by decreasing cell permeability leading to increased transepithelial electrical resistance, for example, by administering an antibody directed against single chain zonulin thereby inhibiting epidermal growth factor receptor and inhibiting proteinase-activated receptor 2 (PAR2).
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| Chromosome 3p21.3 genes are tumor suppressors | 20120108880 | 20120503 |
| Tumor suppressor genes play a major role in the pathogenesis of human lung cancer and other cancers. Cytogenetic and allelotyping studies of fresh tumor and tumor-derived cell lines showed that cytogenetic changes and allele loss on the short arm of chromosome 3 (3p) are most frequently involved in about 90% of small cell lung cancers and greater than 50% of non-small cell lung cancers. A group of recessive oncogenes, Fus1, 101F6, Gene 21 (NPRL2), Gene 26 (CACNA2D2), Luca 1 (HYAL1), Luca 2 (HYAL2), PL6, 123F2 (RaSSFI), SEM A3 and Beta* (BLU), as defined by homozygous deletions in lung cancers, have been located and isolated at 3p21.3.
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| Flexibly filterable visual overlay of individual genome sequence data onto biological relational networks | 20120110013 | 20120503 |
| The present invention pertains to methods, apparatuses and systems for providing a visually simple and salient display of an individual's genomic data overlaid onto one or more relational networks of one or more biological objects, such as information about genes, regulatory regions, promoters or enhancers. The present invention utilizes individual genomic variant information that is annotated with variant information of one or more relational networks having information of biological objects. The display also provides a representation as to the type and nature of individual's variant associated with the relational network such as homozygous variants, heterozygous variants, previously reported genotype-phenotype association, situation within a splice-site region, category of change (e.g., frameshift, nonsense, missense, etc.), predicted effect on protein function (function-changing, tolerated, etc.), and novelty.
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| Hla homozygous cells and methods of use thereof | 20120093790 | 20120419 |
| The present invention provides methods of generating a mammalian cell that is homozygous at a locus of interest, as well as cells made by the method. The present invention further provides methods of using the cells.
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| Schweinfurthins and uses thereof | 20120095089 | 20120419 |
| Disclosed is a method for preventing or treating an undesirable condition in a subject carrying cells homozygous null for the neurofibromatosis type 1 gene or subjects that are haploinsufficient for the neurofibromatosis type 1 gene, the method comprising administering to a subject in need thereof an effective amount of a schweinfurthin or schweinfurthin analog or derivative, or a pharmaceutically acceptable salt, prodrug, hydrate, or solvate thereof. Also disclosed is a new schweinfurthin compound of the formula.
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| Methods of determining plant zygosity using mass spectrometry | 20120080590 | 20120405 |
| The present invention relates to methods and systems for identifying seeds that are homozygous for an allele of interest and/or for identifying seeds that are likely to produce plants possessing a desired trait. Methods of producing plants that are homozygous for an allele of interest and/or that possess a desired trait are also provided.
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| Chromosome 3p21.3 genes are tumor suppressors | 20120076851 | 20120329 |
| Tumor suppressor genes play a major role in the pathogenesis of human lung cancer and other cancers. Cytogenetic and allelotyping studies of fresh tumor and tumor-derived cell lines showed that cytogenetic changes and allele loss on the short arm of chromosome 3 (3p) are most frequently involved in about 90% of small cell lung cancers and greater than 50% of non-small cell lung cancers. A group of recessive oncogenes, Fus1, 101F6, Gene 21 (NPRL2), Gene 26 (CACNA2D2), Luca 1 (HYAL1), Luca 2 (HYAL2), PL6, 123F2 (RaSSFI), SEM A3 and Beta* (BLU), as defined by homozygous deletions in lung cancers, have been located and isolated at 3p21.3.
... |
| Apple tree named 'wa 5' | 20120079638 | 20120329 |
| A new and distinctive variety of a Malus domestica ‘apple’ tree, named ‘WA 5’, that is distinguished by its attractive color of bright orange-red with distinct stripe over yellow background and exceptional eating quality, both fresh and after several months in common storage. WA 5 is homozygous for the ethylene production genes ASC1-2/2 and ACO1-1/1 which confer low ethylene production
... |
| Methods for increasing the yield of fermentable sugars from plant stover | 20120058524 | 20120308 |
| Methods for increasing yield of fermentable sugars from plant stover are provided. The methods include using plants homozygous for two brown midrib mutations, bm1 and bm3. The methods also include using plants homozygous for a mutation in a gene that results in reduced cinnamyl alcohol dehydrogenase activity, and a mutation in a gene that results in reduced 5-hydroxyconiferaldehyde/5-hydroxyconiferyl alcohol O-methyltransferase activity. The methods also include using transgenic plants that have reduced cinnamyl alcohol dehydrogenase activity and reduced 5-hydroxyconiferaldehyde/5-hydroxyconiferyl alcohol O-methyltransferase activity in comparison with wild-type plants.
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| Genetic indicators of weight loss | 20120040342 | 20120216 |
| Methods for determining resistance to weight loss and susceptibility to binge eating episodes are described. The methods include determination of the presence of a obesity related alleles for a patient at single nucleotide polymorphism sites associated with the genes INSIG2, FTO, MC4R, and PCSK1. The total number of obesity alleles for the patient is indicative of the patient's resistance to weight loss and susceptibility to weight gain following bariatric surgery. The methods also include determining if a patient is homozygous for an obesity related allele at one or more single nucleotide polymorphism sites of the four genes.
... |
| Dominant gene suppression transgenes and methods of using same | 20120011614 | 20120112 |
| Pairs of plants are provided in which complementing constructs result in suppression of a parental phenotype in the progeny. Methods to generate and maintain such plants and methods of use of said plants, are provided, including use of parental plants to produce sterile plants for hybrid seed production. Also provided are methods for maintaining a homozygous recessive condition and for repressing transmission of transgenes.
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| Parthenocarpy genes in tomato | 20110016549 | 20110120 |
| The present invention relates to Solanum lycopersicum plants carrying one or more of the pat-6, pat-7, pat-8 and pat-9 parthenocarpy genes. Preferred plants comprise a pair of pat-6 and pat-7 genes or a pair of pat-8 and pat-9 genes, whereby preferably the plant is homozygous for at least one of the two genes in the pair, more preferably the plant is homozygous for both genes in the pair. Such plants are capable of producing seedless tomatoes. The invention further relates to methods for producing plants carrying one or more of the pat-6, pat-7, pat-8 and pat-9 parthenocarpy genes using marker-assisted breeding.
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| Screening method for predicting susceptibility to breast cancer | 20110014206 | 20110120 |
| A method to aid in identifying a familial or sporadic pattern of risk in at least one individual for developing cancer of a mucosal epithelial tissue, the method comprising screening said at least one individual for heterozygosity or homozygosity for a mutation in a gene coding for a Poly-Ig (Fc) receptor or a Poly-Ig-like (Fc) receptor capable of mediating inhibition of cancer cell growth by an immunoglobulin inhibitor. A method of treating an individual so identified includes enhancing the amount of immunoglobulin inhibitor contacting a mucosal epithelial tissue of said individual, and, especially in individuals homozygous for the defective receptor, may also include prophylactic surgery. Other methods include implementation of a risk reduction or prevention program in individuals identified as being at risk.
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| Method of expanding human hepatocytes in vivo | 20100325747 | 20101223 |
| Described herein is a method of expanding human hepatocytes in vivo using an immunodeficient mouse which is further deficient in fumarylacetoacetate hydrolase (Fah). The method comprises transplanting human hepatocytes into the immunodeficient and Fah-deficient mice, allowing the hepatocytes to expand and collecting the expanded human hepatocytes. The method also allows serial transplantation of the human hepatocytes into secondary, tertiary, quaternary or additional mice. Also provided are mutant mice comprising homozygous deletions or point mutations in the Fah, Rag2 and Il2rg genes.
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| Use of riboflavin in the treatment of hypertension | 20100324019 | 20101223 |
| The invention provides the use of riboflavin in the manufacture of a medicament for the treatment or prophylaxis of elevated blood pressure in a subject homozygous or heterozygous for the MTHFR C677T polymorphism. The invention also provides a pharmaceutical product for the treatment or prophylaxis of elevated blood pressure in a subject homozygous or heterozygous for the MTHFR C677T polymorphism, comprising a pharmaceutically effective amount of an anti-hypertensive agent and riboflavin, and the invention further provides a method of treatment of such a subject comprising the administration of riboflavin.
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| Nucleotide sequences mediating plant male fertility and method of using same | 20100313294 | 20101209 |
| Nucleotide sequences mediating male fertility in plants are described, with DNA molecule and amino acid sequences set forth. Promoter sequences and their essential regions are also identified. The nucleotide sequences are useful in mediating male fertility in plants. In one such method, the homozygous recessive condition of male sterility causing alleles is maintained after crossing with a second plant, where the second plant contains a restoring transgene construct having a nucleotide sequence which reverses the homozygous condition. The restoring sequence is linked with a hemizygous sequence encoding a product inhibiting formation or function of male gametes. The maintainer plant produces only viable male gametes which do not contain the restoring transgene construct. Increase of the maintainer plant is also provided by self-fertilization, and selection for seed... |
| Nucleotide sequences mediating plant male fertility and method of using same | 20100313293 | 20101209 |
| Nucleotide sequences mediating male fertility in plants are described, with DNA molecule and amino acid sequences set forth. Promoter sequences and their essential regions are also identified. The nucleotide sequences are useful in mediating male fertility in plants. In one such method, the homozygous recessive condition of male sterility causing alleles is maintained after crossing with a second plant, where the second plant contains a restoring transgene construct having a nucleotide sequence which reverses the homozygous condition. The restoring sequence is linked with a hemizygous sequence encoding a product inhibiting formation or function of male gametes. The maintainer plant produces only viable male gametes which do not contain the restoring transgene construct. Increase of the maintainer plant is also provided by self-fertilization, and selection for seed... |
| Nucleotide sequences mediating plant male fertility and method of using same | 20100313292 | 20101209 |
| Nucleotide sequences mediating male fertility in plants are described, with DNA molecule and amino acid sequences set forth. Promoter sequences and their essential regions are also identified. The nucleotide sequences are useful in mediating male fertility in plants. In one such method, the homozygous recessive condition of male sterility causing alleles is maintained after crossing with a second plant, where the second plant contains a restoring transgene construct having a nucleotide sequence which reverses the homozygous condition. The restoring sequence is linked with a hemizygous sequence encoding a product inhibiting formation or function of male gametes. The maintainer plant produces only viable male gametes which do not contain the restoring transgene construct. Increase of the maintainer plant is also provided by self-fertilization, and selection for seed... |
| Compositions and methods for making mutations in cell lines and animals | 20100311612 | 20101209 |
| The present invention is directed generally to reduction or inactivation of gene function or gene expression in cells in vitro and in multicellular organisms. The invention encompasses methods for mutating cells using a combination of mutagens, particularly wherein at least one mutagen is an insertional mutagen, to achieve homozygous gene mutation or mutation of multiple genes required cumulatively to achieve a phenotype to create knock-outs, knock-downs, and other modifications in the same cell. The invention is also directed to cells (and libraries thereof) and organisms created by the methods of the invention, including those in which at least one of the genes created by insertional mutagenesis is tagged by means of the insertion sequences thereby allowing identification of the mutated gene(s). The invention is also directed... |
| Methods and compositions for selecting an improved plant | 20100299773 | 20101125 |
| The invention is directed, in an embodiment, to a method for producing a transgenic plant comprising: providing a substantially homozygous plant line suitable for transformation; selecting a subline of the plant line having reduced heterogeneity; transforming plant materials from the subline with a transgenic construct that confers a desired trait to at least one transformed plant; recovering at least one transgenic event from the transformation step; and selecting a transgenic event exhibiting a desirable level of the desired trait using plants of the subline as control. The invention is also directed to a method for producing a plant having a desired trait comprising: providing a substantially homozygous plant line; selecting a subline of the plant line having reduced heterogeneity; crossing at least one individual of the... |
| Regulation of translation of heterologously expressed genes | 20100291625 | 20101118 |
| The present invention pertains to a method of expressing a protein of interest, preferably a heterologous protein, in preferably a plant. In a preferred embodiment said plant is a doubled haploid homozygous transgenic Nicotiana tabacum plant silenced for Ntp303. Furthermore, the invention relates to said plant with or without nucleic acid constructs according to the invention. Propagation, harvest and tissue material of said transgenic Nicotiana tabacum plant is also a part of the invention.
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| Nucleotide sequences mediating plant male fertility and method of using same | 20100287656 | 20101111 |
| Nucleotide sequences mediating male fertility in plants are described, with DNA molecule and amino acid sequences set forth. Promoter sequences and their essential regions are also identified. The nucleotide sequences are useful in mediating male fertility in plants. In one such method, the homozygous recessive condition of male sterility causing alleles is maintained after crossing with a second plant, where the second plant contains a restoring transgene construct having a nucleotide sequence which reverses the homozygous condition. The restoring sequence is linked with a hemizygous sequence encoding a product inhibiting formation or function of male gametes. The maintainer plant produces only viable male gametes which do not contain the restoring transgene construct. Increase of the maintainer plant is also provided by self-fertilization, and selection for seed... |
| Nucleotide sequences mediating plant male fertility and method of using same | 20100287655 | 20101111 |
| Nucleotide sequences mediating male fertility in plants are described, with DNA molecule and amino acid sequences set forth. Promoter sequences and their essential regions are also identified. The nucleotide sequences are useful in mediating male fertility in plants. In one such method, the homozygous recessive condition of male sterility causing alleles is maintained after crossing with a second plant, where the second plant contains a restoring transgene construct having a nucleotide sequence which reverses the homozygous condition. The restoring sequence is linked with a hemizygous sequence encoding a product inhibiting formation or function of male gametes. The maintainer plant produces only viable male gametes which do not contain the restoring transgene construct. Increase of the maintainer plant is also provided by self-fertilization, and selection for seed... |
| Selecting nucleic acid samples suitable for genotyping | 20100285463 | 20101111 |
| The present invention relates to a method for selecting a DNA sample comprising genomic DNA suitable for genotyping, comprising the steps of: i) pre-genotyping said genomic DNA using a set of polymorphic markers; ii) determining out of said set of polymorphic markers the percentage of polymorphic markers for which said genomic DNA is homozygous; and iii) selecting said DNA sample when said genomic DNA is homozygous for less than 70% of said set of polymorphic markers. Furthermore, a method of genotyping comprising a step of using a DNA sample selected by the method in accordance with the present invention and/or a step of applying the method provided herein is disclosed. The present invention also relates to a method for identifying a gene or a locus on... |
| Prediction of schizophrenia risk using homozygous genetic markers | 20100285455 | 20101111 |
| Provided are methods of identifying a genetic profile influencing the relative probability of a subject manifesting a phenotype that is at least partially heritable. Also provided are methods of determining the relative likelihood that a subject will manifest a phenotype that is at least partially heritable. Additionally, methods of determining the relative risk of a human subject for manifesting schizophrenia are provided. Further provided are methods of screening a human embryo in vitro for the risk of becoming a human manifesting schizophrenia. Also, methods of identifying a single nucleotide polymorphism (SNP) variant affecting the risk of a human subject for manifesting schizophrenia are provided. Methods of screening for a compound that may affect schizophrenia are additionally provided.
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| Apple tree named 'wa 2' | 20100251440 | 20100930 |
| A new and distinctive variety of an Malus domestica ‘apple’ tree, named ‘WA 2’, that is distinguished by its attractive blush, outstanding texture being firm, crisp and juicy, and the presence of the homozygous genes for ethylene production ACSI-2/2 and ACO1-2/2 which contribute to maintaining the fruit quality over long periods of storage.
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| Compositions and methods for modulating plant disease resistance and immunity | 20100223690 | 20100902 |
| Provided are methods for enhancing plant cell disease resistance, comprising (1) generating a homozygous gene modification of AtSR1 (or AtSR1 ortholog or homolog) in a plant or plant cell characterized by sialic acid-mediated systemic acquired resistance (SA-mediated SAR), wherein said gene modification reduces or eliminates the calmodulin-binding activity of the respective AtSR1 or AtSR1 ortholog or homolog; or (2) expression of a recombinant or mutant AtSR1 sequence (or AtSR1 gene ortholog or homolog sequence) encoding a modified AtSR1, or AtSR1 ortholog or homolog protein, in a plant or plant cell, wherein said protein modification reduces or eliminates the calmodulin-binding activity of the respective AtSR1 or AtSR1 ortholog or homolog protein. Plants and/or plant cells comprising said modified AtSR1, or AtSR1 ortholog or homolog proteins, and/or said... |
| Detection of gene duplications | 20100203525 | 20100812 |
| Methods of detecting a candidate genetic anomaly such as a candidate duplication in a genome are disclosed. The methods comprise quantifying fluorogenic assays for alleles of a genetic locus from a plurality of individual genomes, identifying ranges of fluorescent intensities indicative of individual genomes homozygous for a first allele, homozygous for a second allele, or heterozygous for both alleles, and identifying individual genomes in which the fluorescence intensities are outside the range of intensities indicative of homozygosity or heterozygosity for the genetic locus.
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| Method and a kit for identifying a human who has the predisposition for increased consumption of carbohydrates and method for managing the named human's dietary intake of nutritional energy | 20100196896 | 20100805 |
| A method and a kit for determining the human with genetic predisposition to increased consumption of carbohydrates and to develop metabolic, psychiatric or neurological disease or disorder, or obesity. The invention pertains to the detection of a human's ADRA2A genotype, and if there is detected the homozygous nucleotide G at the position C-1291 of the ADRA2A gene, then the patient possesses a predisposition to increased consumption of carbohydrates and to develop metabolic, psychiatric or neurological diseases or disorders or obesity, and there is a need to decrease intake of carbohydrates.
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| Development of low allergen soybean seeds using molecular markers for the p34 allele | 20100190154 | 20100729 |
| A mutation in the gene encoding the P34 protein in soybean which affects allergenicity is characterized. Soybean homozygous for a mutant allele comprising a four base pair insertion at the start codon of the gene encoding the P34 protein, exhibit significantly reduced P34 protein accumulation. Nucleic acid samples of soybean may be assayed for the presence of this insertion to detect the mutant allele, and soybean containing the allele may be selected for breeding to generate reduced P34 soybean lines. Molecular markers have been developed for detecting the presence or absence of the four base pair insertion.
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| Random homozygous gene perturbation (rhgp) with thermal assymetric interlaced (tail)-pcr | 20100183628 | 20100722 |
| A method for identifying host genes and encoded proteins for potential targets for therapeutic intervention employs a Gene Search Vector that is either lentivirus or MMLV-based, and can be used to interrogate an entire cell genome without prior knowledge of the genomic sequence. This Random Homozygous Gene Perturbation (RUGP) technique is rapidly verifiable and is used to identify potential host targets for intervention for influenza, HIV and other viral infections. Using Thermal Assymetric Interlaced (TAIL)-PCR, the period for identification of promising targets is reduced from months to weeks or less. Specific targets including PTCH1, Robo1 and Nedd4 are reviewed in detail.
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| Methods of producing haploid and doubled haploid oil palms | 20100138951 | 20100603 |
| The present invention relates to haploid oil palm plants and homozygous doubled haploid oil palm plants. The invention also relates to methods for producing and selecting haploid and doubled haploid plants. More particularly, but not exclusively, the method may be used for selecting haploid and doubled haploid oil palm plants. Haploid and doubled haploid plants are selected by a large-scale screening based on a combination of the phenotype with the use of molecular methods combined with flow cytometry techniques to identify haploid and doubled haploid plants. More particularly, a method for selecting haploid and doubled haploid plants is described comprising: (a) germinating seeds; (b) selecting seedlings with atypical phenotype; (c) assessing heterozygosity using markers; (d) isolating cells from the seedlings and determining the DNA content of... |
| Integrated analyses of breast and colorectal cancers | 20100136560 | 20100603 |
| Genome-wide analysis of copy number changes in breast and colorectal tumors used approaches that can reliably detect homozygous deletions and amplifications. The number of genes altered by major copy number changes—deletion of all copies or amplification of at least twelve copies per cell—averaged thirteen per tumor. These data were integrated with previous mutation analyses of the Reference Sequence genes in these same tumor types to identify genes and cellular pathways affected by both copy number changes and point alterations. Pathways enriched for genetic alterations include those controlling cell adhesion, intracellular signaling, DNA topological change, and cell cycle control. These analyses provide an integrated view of copy number and sequencing alterations on a genome-wide scale and identify genes and pathways that are useful for cancer diagnosis and... |
| Dominant gene suppression transgenes and methods of using same | 20100122367 | 20100513 |
| Pairs of plants are provided in which complementing constructs result in suppression of a parental phenotype in the progeny. Methods to generate and maintain such plants and methods of use of said plants, are provided, including use of parental plants to produce sterile plants for hybrid seed production. Also provided are methods for maintaining a homozygous recessive condition and for repressing transmission of transgenes.
... |
| Double-muscling in mammals | 20100107265 | 20100429 |
| The invention relates to a gene (cDNA) encoding a bovine myostatin protein. The nucleic acid coding sequence is identified as SEQ ID NO:1 and the protein sequence is identified as SEQ ID NO:2. A mutant gene (SEQ ID NO:3) in which the coding sequence lacks an 11-base pair consecutive sequence (SEQ ID NO:11) of the sequence encoding bovine protein having myostatin has been sequenced. It has been shown that cattle of the Belgian Blue breed homozygous for the mutant gene lacking myostatin activity are double-muscled. A method for determining the presence of muscular hyperplasia in a mammal is described. The method includes obtaining a sample of material containing DNA from the mammal and ascertaining whether a sequence of the DNA encoding (a) a protein having the... |
| C-reactive protein (crp) knockout mouse | 20100107263 | 20100429 |
| The instant invention relates to a transgenic, non-human animal that carries a mutation in the gene encoding C-reactive protein (CRP). Preferably, the invention relates to an animal comprising a homozygous CRP-deficient mouse and techniques for producing such animals. The invention also relates to organs, tissues, cells, cell lines and sub-cellular fractions derived from such animals. Techniques for generating total or tissue-specific CRP knockout animals are also described. The invention further relates to the use of such knockout animals for the study of the role of CRP proteins in vivo or ex vivo, particularly in relation to its role in inflammatory pathway and in the etiology human diseases.
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| Lolium multiflorum line inducing genome loss | 20100083400 | 20100401 |
| Dihaploid homozygous Fescue species may be produced by interspecific hybridization of Fescue with novel ryegrass, Lolium multiflorum, lines, that induce genome loss. Plants that are dihaploid homozygous Lolium and amphidiploids are also produced.
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| Animal model exhibiting cancer, pulmonary emphysema and cardiomyopathy | 20100077490 | 20100325 |
| A transgenic mouse model for colorectal cancer, pulmonary emphysema or cardiomyopathy comprises a transgenic mouse that produces suboptimal levels of latent transforming growth factor β binding protein 4 (LTBP-4). The transgenic mouse includes a mutation resulting in homozygous disruption of both endogenous alleles of a gene encoding LTBP-4, and develops colorectal cancer, pulmonary emphysema or cardiomyopathy.
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| Methods for producing embryonic stem cells from parthenogenetic embryos | 20100069251 | 20100318 |
| Means for producing embryonic stem (pES) cells which have a heterozygous genome that is matched to an individual donor are provided. In one embodiment, a means for the generation and isolation of parthenogenetic embryonic stem (pES) cells which have regions of heterozygosity that are fully matched to the oocyte donor at the MHC loci (e.g. (h-)p(MI)ES cells is provided. This is in contrast to the traditional methods of parthenogenesis that generate parthenogenetic embryonic stem (pES) cells having a substantially homozygous haploidentical set of chromosomes that are homozygous at the MHC loci.
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| Methods and kits for early detection of cancer or predisposition thereto | 20100062450 | 20100311 |
| Methods and kits for diagnosing cancer or a pre-malignant lesion by determining the presence and/or level of circulating CD24 of a subject are provided. Also provided are methods and kits for determining if a subject is predisposed to gastrointestinal cancer by the determining the presence or absence, in a homozygous or heterozygous form of cancer associated genotype(s) in the CD24 and/or APC nucleic acid sequences. Also provided are methods and kits for monitoring efficacy of cancer therapy by determining the presence and/or level of circulating CD24 of a subject.
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| Cotton varieties having a main stem load structure | 20100043084 | 20100218 |
| The present invention relates to a cotton plant, seed, variety and hybrid. More specifically, the invention relates to a cotton plant having a mutant allele designated OA1 which results in a cotton plant with a Main Stem Load structure when present in either the heterozygous or homozygous state. The invention also relates to crossing cotton plants containing the OA1 mutant allele with cotton plants lacking the OA1 mutant allele to produce novel types of cotton plants.
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| Homozygote haplotype method | 20090327203 | 20091231 |
| To provide a method of efficiently searching for a disease sensitivity gene and an apparatus therefor. It is intended to provide: a method of determining a homoeologous region which comprises the polymorphism marker selection step of selecting a polymorphism marker usable as the subject of the homozygote determination, the homozygote determination step of determining whether or not bases constituting a specimen DNA which is a diploid or higher are homozygous, the homozygote haplotype data acquisition step of selecting exclusively polymorphism markers determined as homozygous and acquiring homozygote haplotype data of each specimen, the homozygous region data acquisition step of comparing the above-described homozygote haplotype data of two or more specimens and acquiring common homozygous region data, and the homoeologous region determination step of determining a common... |
| Methods and materials for detecting and treating dementia | 20090291444 | 20091126 |
| This document relates to methods and materials involved in detecting mutations linked to dementia (e.g., frontotemporal lobar degeneration). For example, methods and materials for determining whether or not a mammal is homozygous for a mutant T allele of rs5848 are provided. This document also relates to methods and materials involved in treating mammals having or being susceptible to developing neurodegenerative disorders (e.g., frontotemporal lobar degeneration). For example, methods and materials for inhibiting the ability of miRNA to suppress GRN polypeptide expression in mammals are provided.
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| Chemical selection of resistant gametes of plants in the field | 20090275473 | 20091105 |
| The present invention provides methods for chemical selection of female gametes that do not contain a transgene of interest in plants. The methods result is increased efficiency of a breeding program to provide increased trait purity by ensuring that inbreds and plants are homozygous for a transgene of interest. Herbicides such as glyphosate can be used as the chemical gametocide to selectively eliminate female gametes that do not contain the gene conferring glyphosate resistance, resulting in seed or progeny substantially homozygous for such herbicide resistance on a large scale in a single generation.
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| Chemical selection of resistant gametes of plants in the field | 20090275473 | 20091105 |
| The present invention provides methods for chemical selection of female gametes that do not contain a transgene of interest in plants. The methods result is increased efficiency of a breeding program to provide increased trait purity by ensuring that inbreds and plants are homozygous for a transgene of interest. Herbicides such as glyphosate can be used as the chemical gametocide to selectively eliminate female gametes that do not contain the gene conferring glyphosate resistance, resulting in seed or progeny substantially homozygous for such herbicide resistance on a large scale in a single generation.
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| Totipotent, nearly totipotent or pluripotent mammalian cells homozygous or hemizygous for one or more histocompatibility antigent genes | 20090271335 | 20091029 |
| The present invention relates to totipotent, nearly totipotent and pluripotent stem cells that are hemizygous or homozygous for MHC antigens and methods of making and using them. These cells are useful for reduced immunogenicity during transplantation and cell therapy. The cells of the present invention may be assembled into a bank with reduced complexity in the MHC genes.
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| Totipotent, nearly totipotent or pluripotent mammalian cells homozygous or hemizygous for one or more histocompatibility antigent genes | 20090271335 | 20091029 |
| The present invention relates to totipotent, nearly totipotent and pluripotent stem cells that are hemizygous or homozygous for MHC antigens and methods of making and using them. These cells are useful for reduced immunogenicity during transplantation and cell therapy. The cells of the present invention may be assembled into a bank with reduced complexity in the MHC genes.
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| Phenotype-genotype relationship in age-related macular degeneration | 20090263801 | 20091022 |
| Age-Related Macular Degeneration (AMD) cases possessing the LOC387715 (rs10490924) variant have a higher risk of neovascular AMD. Individuals with AMD who are homozygous for both variants might be at greater risk for earlier onset of neovascular AMD. Determining the presence of this variant indicates which path the disease may take and which nutritional, supplement, or medicaments are appropriate.
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| Hairless immunodeficient mouse model | 20090235372 | 20090917 |
| The invention is directed to a hairless, immunodeficient mouse that is homozygous recessive for a hairless (Hrhr) allele and both B-cell deficient and T-cell deficient. The B-cell and T-cell deficiency is attributed to a homozygous recessive scid allele (Prkdcscid), a homozygous recessive beige allele (Lystbg), or a mutated Rag allele. These mice offer an advantage over nude mouse models used in cancer research because they can be maintained as homozygous breeding pairs and they have greater immune deficits, which permit better growth of xenogenic tumor lines, and rapid assessment of cutaneous and subcutaneous tumors and tissue grafts.
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| Hairless immunodeficient mouse model | 20090235372 | 20090917 |
| The invention is directed to a hairless, immunodeficient mouse that is homozygous recessive for a hairless (Hrhr) allele and both B-cell deficient and T-cell deficient. The B-cell and T-cell deficiency is attributed to a homozygous recessive scid allele (Prkdcscid), a homozygous recessive beige allele (Lystbg), or a mutated Rag allele. These mice offer an advantage over nude mouse models used in cancer research because they can be maintained as homozygous breeding pairs and they have greater immune deficits, which permit better growth of xenogenic tumor lines, and rapid assessment of cutaneous and subcutaneous tumors and tissue grafts.
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| Mutation in the regulatory region of gjb2 mediates neonatal hearing loss within dfnb1 | 20090226920 | 20090910 |
| Homozygous alterations in the gap junction protein GJB2 (connexin 26), within the DFNB1 locus, are responsible for up to 50% of autosomal recessive non-syndromic hearing impairment (NSHI). Mutations have been described throughout the coding region and more rarely, within the splice donor site. To further investigate the role of GJB2 in NSHI, we have now screened the putative 5′ regulatory region for novel alterations. In idiopathic cases of NSHI lacking known pathogenic alterations in GJB2, we have now identified a T→C transition 228 bp proximal to the transcriptional start site (T-228C) present at a homozygous frequency of 0.2, which is significantly overrepresented in comparison to the predicted homozygous allele frequencies in the healthy population (0.0144). In a NSHI family, inheritance of T-228C was shown to segregate... |
| Uses of anti-cd40 antibodies | 20090202531 | 20090813 |
| Methods for treating a human patient for an inflammatory or autoimmune disease that is associated with CD40-expressing cells are provided, where the human patient is heterozygous or homozygous for FcγRIIIa-158F (genotype V/F or F/F). Also provided are methods of inhibiting antibody production by B cells in a human patient who is heterozygous or homozygous for FcγRIIIa-158F (genotype V/F or F/F). The methods comprise administering to the human patient a therapeutically or prophylactically effective amount of an anti-CD40 antibody. Methods and kits for identifying a human patient with an inflammatory or autoimmune disease that is treatable with an anti-CD40 antibody and which is non-responsive or refractory to treatment with rituximab (Rituxan®), as well as methods and kits for selecting an antibody therapy for treatment of a human... |
| Nucleotide seqeunces mediating male fertility and method of using same | 20090183284 | 20090716 |
| Nucleotide sequences mediating male fertility in plants are described, with DNA molecule and amino acid sequences set forth. Promoter sequences and their essential regions are also identified. The nucleotide sequences are useful in mediating male fertility in plants. In one such method, the homozygous recessive condition of male sterility causing alleles is maintained after crossing with a second plant, where the second plant contains a restoring transgene construct having a nucleotide sequence which reverses the homozygous condition. The restoring sequence is linked with a hemizygous sequence encoding a product inhibiting formation or function of male gametes. The maintainer plant produces only viable male gametes which do not contain the restoring transgene construct. Increase of the maintainer plant is also provided by self-fertilization, and selection for seed... |
| Diagnostic test for collie eye anomaly | 20090176225 | 20090709 |
| The invention relates to a method for identifying dogs which are genetically normal, heterozygous for, or homozygous for the mutation primarily responsible for Collie eye anomaly (CEA). The method comprises the steps of obtaining a biological sample from a dog and testing DNA in the biological sample for the presence or absence of a 7.8 kilobase deletion within chromosome 37 in which the CEA mutation is located. No deletion is indicative of a normal dog. A deletion on one allele of chromosome 37 is indicative of a dog that is heterozygous for the CEA mutation. A deletion in both alleles of chromosome 37 are indicative of a dog that is homozygous for the CEA mutation. Also provided is a kit for identifying a dog as normal,... |
| Mutants of the factor vii-activating protease and detection methods using specific antibodies | 20090162871 | 20090625 |
| Mutants of the DNA sequence coding for the protease (FSAP) which activates blood clotting factor VII and single-chain plasminogen activators, the mutants comprising a G/C base exchange at nucleotide position 1177 and/or a G/A base exchange at nucleotide position 1601, are described. The corresponding protease has a Glu/Gln exchange at amino acid position 393 and/or a Gly/Glu exchange at amino acid position 534. Diagnostic methods which are used for detecting FSAP in body fluids or tissue cells and also for identifying patients with genetic heterozygous or homozygous FSAP expression are also described. In addition, antibodies against FSAP and its mutants are disclosed and diagnostic methods which can be used to detect antibodies against FSAP and its mutants are specified.
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| Mutants of the factor vii-activating protease and detection methods using specific antibodies | 20090162871 | 20090625 |
| Mutants of the DNA sequence coding for the protease (FSAP) which activates blood clotting factor VII and single-chain plasminogen activators, the mutants comprising a G/C base exchange at nucleotide position 1177 and/or a G/A base exchange at nucleotide position 1601, are described. The corresponding protease has a Glu/Gln exchange at amino acid position 393 and/or a Gly/Glu exchange at amino acid position 534. Diagnostic methods which are used for detecting FSAP in body fluids or tissue cells and also for identifying patients with genetic heterozygous or homozygous FSAP expression are also described. In addition, antibodies against FSAP and its mutants are disclosed and diagnostic methods which can be used to detect antibodies against FSAP and its mutants are specified.
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| Cloning multiple control sequences into chromosomes or into artificial centromeres | 20090155794 | 20090618 |
| Artificially synthesizing 29 homozygous cystic fibrosis core panel controls demonstrates placing multiple homozygous mutant sequences on the same single control DNA sequence to streamline quality control by minimizing extra control assays, time, and costly formatted test materials and testing all controls during every test. Any rare or unavailable reported DNA sequence can be PCR amplified using primer pairs synthesized with the designated mutation or variant sequence with paired adjacent upstream and downstream primers to amplify target sequences in total genomic DNA.
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| Random homozygous gene perturbation to enhance antibody production | 20090136927 | 20090528 |
| The invention reflects enhanced antibody expression of an antibody of interest by cell lines transformed by random homozygous gene perturbation methods to either increase or decrease the expression pattern of a gene of the cell line other than the antibody of interest. The transformed cell line exhibits specific productivity rates, SPR, for the RHGP transformed cell liens of 1.5 or more, as compared with the antibody expressing cell line parents prior to transformation by RHGP. A knock out or anti-sense construct may be devised to reduce expression of the target gene, a promoter may be inserter to enhance expression of the target gene. The antibodies expressed by the transformed cell lines exhibit the binding properties of their parent cell lines prior to transformation with RHGP, and... |
| Methods for evaluating genetic susceptibility and therapy for chronic inflammatory diseases | 20090117046 | 20090507 |
| The invention discloses a knockout mouse that is homozygous for a RUNX3 null allele, as a novel model for chronic inflammatory disease. The present invention provides methods of diagnosing and assessing predisposition to chronic inflammatory diseases. The present invention further provides methods for testing agents for effectiveness in treating and/or preventing diseases associated with chronic inflammatory or autoimmune conditions.
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| Uses of anti-cd40 antibodies | 20090117111 | 20090507 |
| Methods for treating a human patient for a cancer or pre-malignant condition that is associated with CD40-expressing cells are provided, where the human patient is heterozygous or homozygous for FcγRIIIa-158F (genotype V/F or F/F). Also provided are methods of inhibiting antibody production by B cells in a human patient who is heterozygous or homozygous for FcγRIIIa-158F (genotype V/F or F/F). The methods comprise administering to the human patient a therapeutically or prophylactically effective amount of an anti-CD40 antibody. Methods and kits for identifying a human patient with a cancer or pre-malignant condition that is treatable with an anti-CD40 antibody and which is refractory to treatment with rituximab (Rituxan®), as well as methods and kits for selecting an antibody therapy for treatment of a human patient having... |
| Long distance polymerase chain reaction-based assay for detecting chromosomal rearrangements | 20090087839 | 20090402 |
| Methods are presented for determining the presence of an inversion in the factor VIII gene which cause hemophilia A. The methods encompass long distance, multiplex PCR (including overlapping PCR). The use of deaza-dGTP, high levels of DNA polymerases and high levels of DMSO aid in successfully performing the PCR. The use of a novel technique called subcycling PCR can also be applied as part of the methods. The technique allows for the determination of whether a person is homozygous or hemizygous for the inversion and has hemophilia A or whether a person is heterozygous for the inversion and is a carrier. The technique of long distance, multiplex PCR including use of deaza-dGTP, high levels of DNA polymerases and high levels of DMSO are applicable to the... |
| Kits and methods for assessing the coenzyme q reducing status of a patient, including a patient ingesting a statin | 20090081683 | 20090326 |
| The disclosure relates to kits and methods for assessing whether an individual is likely to benefit from nutritional supplementation with coenzyme Q and, more particularly, a reduced form of coenzyme Q. The methods involve assessing occurrence of a polymorphism in the gene encoding NQO1 in the individual. Individuals homozygous for the polymorphism will receive optimal benefits from supplementation with the reduced form of coenzyme Q. The disclosure further relates to methods for predicting and assigning a coenzyme Q redox status phenotype based on assessment of an individual's genome for a polymorphism in the gene encoding NQO1.
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| Chromosome 3p21.3 genes are tumor suppressors | 20090023207 | 20090122 |
| Tumor suppressor genes play a major role in the pathogenesis of human lung cancer and other cancers. Cytogenetic and allelotyping studies of fresh tumor and tumor-derived cell lines showed that cytogenetic changes and allele loss on the short arm of chromosome 3 (3p) are most frequently involved in about 90% of small cell lung cancers and greater than 50% of non-small cell lung cancers. A group of recessive oncogenes, Fus1, 101F6, Gene 21 (NPRL2), Gene 26 (CACNA2D2), Luca 1 (HYAL1), Luca 2 (HYAL2), PL6, 123F2 (RaSSFI), SEM A3 and Beta* (BLU), as defined by homozygous deletions in lung cancers, have been located and isolated at 3p21.3.
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| Targeting the absence: homozygous dna deletions as signposts for cancer therapy | 20090018098 | 20090115 |
| The present application relates to methods and compositions for targeting a homozygous DNA deletion (HD) in cells. Methods, structures, vectors and compositions for activating a payload in cells having an HD are provided. In some embodiments, the method comprises administering, to a population of cells comprising at least one cell having an HD, a nucleic acid vector encoding two complementary protein fusion molecules and a payload such that the payload is selectively activated only in cells having a HD. HDs are attractive “negative” targets for cancer therapy because of their immutability and prevalence in cancer cells. Thus, in some embodiments methods of treating cancer by specifically delivering a payload, such as a toxin, to cancer cells comprising one or more particular HDs are provided.
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| Gene information display method and apparatus | 20080320388 | 20081225 |
| Apparatus and method for appropriately processing gene information in order to allow an easy estimation of haplotypes in large quantities of genome data. A list of genotypes at a plurality of gene loci in a plurality of individuals is displayed, using individual data and gene locus data. The individual data indicates gene loci of individuals and the genotype that exists at each gene locus. The gene locus data indicates a major allele and a minor allele at each gene locus. The individual genotypes are color-coded when they are displayed depending on whether they consist of homozygous major alleles, homozygous minor alleles, or heterozygous major and minor alleles at a particular gene locus.
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| Hybridisation beacon and method of rapid sequence detection and discrimination | 20080311579 | 20081218 |
| A method for detecting specific DNA sequences and discriminating single nucleotide polymorphisms (SNPs) using fluorescently labelled oligonucleotide probes is disclosed. Oligonucleotide probes are labelled with reporter molecules preferentially attached to an internal nucleotide residue. The fluorescence emission of oligonucleotide probes varies significantly when in single-stranded and double-stranded states despite the absence of quencher moieties, allowing reliable detection of complementary DNA targets. The melting temperature of probe/target duplexes permits discrimination of targets that differ by as little as a single nucleotide residue, such that polymorphic targets may be discriminated by fluorescence quantitation and Tm. The hybridisation probes of this invention have been demonstrated to accurately identify homozygous and heterozygous samples using a single fluorescent oligonucleotide and direct investigation of saliva with hybridisation probes permits ultra-rapid genotypic analysis... |
| Maize plant having increased seed yield through recessive genetic determinants that confer expanded corn ear tips | 20080313766 | 20081218 |
| This invention provides a novel means of making maize hybrids and inbreds with expanded ear tip phenotypes for promoting increased seed yield from recessive genetic determinants. This is achieved by making standard inbred×hybrid as well as inbred×inbred crosses followed by selection in the subsequent self-pollinated generations from these plants for expanded ear tip phenotype characteristics to produce new parent inbred lines. Next, the resulting inbreds, having a different pedigree but possessing the recessive expanded ear tip genetic determinants, are crossed to cause the expanded ear tip trait to express as a homozygous recessive trait in an otherwise primarily heterozygous hybrid.
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| Maize plant having increased seed yield through recessive genetic determinants that confer expanded corn ear tips | 20080313767 | 20081218 |
| This invention provides a novel means of making maize hybrids and inbreds with expanded ear tip phenotypes for promoting increased seed yield from recessive genetic determinants. This is achieved by making standard inbred×hybrid as well as inbred×inbred crosses followed by selection in the subsequent self-pollinated generations from these plants for expanded ear tip phenotype characteristics to produce new parent inbred lines. Next, the resulting inbreds, having a different pedigree but possessing the recessive expanded ear tip genetic determinants, are crossed to cause the expanded ear tip trait to express as a homozygous recessive trait in an otherwise primarily heterozygous hybrid.
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| Patient-specific stem cell lines derived from human parthenogenetic blastocysts | 20080299091 | 20081204 |
| Methods are disclosed for generating HLA homozygous parthenogenetic human stem cell (hpSC-Hhom) lines from both HLA homozygous and HLA heterozygous donors. These hpSC-Hhom lines demonstrate typical human embryonic stem cell morphology, expressing appropriate stem cell markers and possessing high levels of alkaline phosphatase and telomerase activity. Additionally, injection of these cell lines into immunodeficient animals leads to teratoma formation. Furthermore, in the case of HLA heterozygous donors, the hpSC-Hhom lines inherit the haplotype from only one of the donor's parents. SNP data analysis suggests that hpSC-Hhom lines derived from HLA heterozygous oocyte donors are homozygous throughout the genome as assessed by single-nucleotide polymorphism (SNP) analysis. The protocol as disclosed minimizes the use of animal-derived components, which makes the stem cells more practical for clinical application.
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| Maize plant having increased seed yield through recessive genetic determinants that confer expanded corn ear tips | 20080301844 | 20081204 |
| This invention provides a novel means of making maize hybrids and inbreds with expanded ear tip phenotypes for promoting increased seed yield from recessive genetic determinants. This is achieved by making standard inbred×hybrid as well as inbred×inbred crosses followed by selection in the subsequent self-pollinated generations from these plants for expanded ear tip phenotype characteristics to produce new parent inbred lines. Next, the resulting inbreds, having a different pedigree but possessing the recessive expanded ear tip genetic determinants, are crossed to cause the expanded ear tip trait to express as a homozygous recessive trait in an otherwise primarily heterozygous hybrid.
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| Genomic polymorphism for predicting therapeutic response | 20080286789 | 20081120 |
| The present invention relates to the use of genomic polymorphism to provide individualized therapeutic regimens to treat patients suffering from diseases such as cancer. The invention discloses methods for determining the efficacy or choice of chemotherapeutic drugs and regimens for use in treating a diseased patient by associating genomic polymorphism with the effectiveness of the drugs or regimens, or by associating genomic polymorphism with the intratumoral expression of a gene whereby the gene expression affects effectiveness of the drugs or regimens. In particular, the present invention provides novel methods for screening therapeutic regimens, which comprise determining a patient's genotype at a tandemly repeated 28 base pair region in the thymidilate synthase (TS) gene's 5′ untranslated region (UTR). Patients homozygous for a triple repeat will be least... |
| Identification of seeds or plants using phenotypic markers | 20080289061 | 20081120 |
| Utilizing phenotypic markers in seeds or plants to allow qualitative detection of a proprietary trait in the harvest, to allow a quantitative calculation of the amount of the trait, and to facilitate the calculation and collection of fees for the trait. The phenotypic markers of the seeds can be the seed coat color, and said seeds can be homozygous or heterozygous for the phenotypic difference of seed coat color. Commercial cultivars of seeds with the phenotypic difference of seed color may be grown to include several different seed colors. Trait fees may be assessed on all grain with the proprietary trait, whether the grain was produced from purchased seed or from seed saved from a previous harvest.
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| Method for personalized diet design for females of asian origin | 20080275728 | 20081106 |
| The present invention provides methods for personalized diet design for females of Asian origin, wherein females who are homozygous for the PLIN 11482A are advised to avoid diets high in fat and low in carbohydrates, to avoid or manage metabolic syndrome and conditions related to metabolic syndrome, such as insulin resistance, diabetes, and cardiovascular disease.
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| Isolated homozygous stem cells, differentiated cells derived therefrom and materials and methods for making and using same | 20080260707 | 20081023 |
| The present invention discloses and describes pluripotent homozygous stem (HS) cells, and methods and materials for making same. The present invention also provides methods for differentiation of HS cells into progenitor (multipotent) cells or other desired cells, groups of cells or tissues. Further, the applications of the HS cells disclosed herein, include (but are not limited to) the diagnosis and treatment of various diseases (for example, genetic diseases, neurodegenerative diseases, endocrine-related disorders and cancer), traumatic injuries, cosmetic or therapeutic transplantation, gene therapy and cell replacement therapy.
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| Ppar-gamma agonists for improvement of cognitive function in apoe4 negative patients | 20080262047 | 20081023 |
| (ii) administering a safe and effective amount of a PPAR-gamma agonist to said subject.
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| Methods for treatment with bucindolol based on genetic targeting | 20080227844 | 20080918 |
| The present invention concerns the use of methods for evaluating bucindolol treatment for a patient, particularly one with heart failure. It concerns methods for determining whether to administer or prescribe bucindolol to a patient based on whether the patient is homozygous for the Arg 389 polymorphism in the β1-adrenergic receptor (AR).
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| Hla homozygous cells and methods of use thereof | 20080219956 | 20080911 |
| The present invention provides methods of generating a mammalian cell that is homozygous at a locus of interest, as well as cells made by the method. The present invention further provides methods of using the cells.
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| Animal model for cancer, methods of producing the same and associated methods of use | 20080216180 | 20080904 |
| A transgenic animal having a somatic cell in which at least one allele of an endogenous p53 and Pten gene is functionally disrupted is provided. The cell of the animal may be heterozygous or, more preferably, homozygous for the gene disruptions. The animals of the invention can be used to evaluate the efficacy of novel therapeutics and to identify novel points of therapeutic intervention for cancer. In certain embodiments, the transgenic animal is a transgenic mouse having functionally disrupted endogenous p53 and Pten genes. This mouse can be used to identify agents that inhibit the development of cancers, namely bladder cancers in humans in vivo. Nucleic acid constructs for functionally disrupting an endogenous p53 and Pten gene in a host cell, recombinant vectors including the nucleic... |
| Doubled haploid cells, embryos and plants | 20080216198 | 20080904 |
| Methods for producing homozygous plants, seeds, and plant cells are provided. Also provided are methods of transformation.
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| Mouse developing visceral fat type obesity and diabetes | 20080209580 | 20080828 |
| An object of the present invention is to provide a mouse which has the characteristics of early developing visceral fat type obesity and also has concurrent diabetes and hyperlipemia and in which the trait is genetically established and recessively inherited. An ICR-derived mouse strain, Daruma, spontaneously developing obesity, exhibiting autosomal recessive inheritance for the trait of spontaneously developing obesity, and becoming obese only in the homozygous type is provided.
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| Transgenic mouse whose genome comprises a homozygous disruption of its alpha1g gene, a method of preparing the same and use thereof | 20080201787 | 20080821 |
| The disclosure concerns a method for resistance of epilepsy by suppressing the function of alpha 1G protein of T-type calcium channels, use of suppressor of alpha 1G protein for prevention or treatment for epilepsy, knockout mice resisting epilepsy by disrupting alpha 1G subunit of T-type calcium channel, and preparation method thereof. The α1G-knockout transgenic mouse can be used for investigating the relationship between diseases particularly neuropathy or psychopathy and the function of α1G T-type calcium channel via various behavioral tests since α1G subunit is mainly expression in central nervous system (CNS) and pheripheral nervous system (PNS). Further, the α1G-knockout transgenic mouse can be used for screening antileptic agents.
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| Immune-compromised transgenic mice expressing human hepatocyte growth factor (hhgf) | 20080196110 | 20080814 |
| A transgenic animal model for evaluating growth, survival and/or metastasis of xenotransplanted normal or tumor cells or tissue is disclosed, in which a human growth factor, hHGF stimulates growth in vivo of human cells or tissue. A strain of Tg mice on the C3H background that is immunocompromised as a result of a homozygous scid gene has been bred which express a nucleic acid encoding hHGF/SE The ectopically expressed hHGF/SF ligand significantly enhances growth of human tumor cell lines and explanted tumor cells or tissue that express the Met receptor for hHGF. Such animals also have an enlarged normal livers and greater than normal liver regenerative capacity. Any Met-expressing hHGF-dependent human cells, including hepatocytes and various stem cells can survive and grow in such animals.
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| High lycopene tomato varieties and use thereof | 20080184382 | 20080731 |
| The present invention relates to hardy tomato (Lycopersicon esculentum) varieties, homozygous for the dark green (dg) gene, producing fruit comprising an average lycopene content at least two fold its content in fruit of currently available commercial tomato varieties, wherein the varieties are adapted for growth on a commercial scale and the fruit crop maintains the average high lycopene content. The present invention further relates to the use of said varieties for the production of tomatoes for the fresh and processed fruit markets as well as for the production of lycopene and products comprising same.
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| Il-21 as a regulator of immunoglobin production | 20080166338 | 20080710 |
| A transgenic mouse is disclosed herein whose somatic and germ cells comprise a disrupted IL-21 receptor gene, the disruption being sufficient to inhibit the binding of IL-21 to an IL-21 receptor, and a disrupted IL-4 gene, the disruption being sufficient to inhibit the production of IL-4 or the binding of IL-4 to the IL-4 receptor. A mouse homozygous for the disrupted IL-21 receptor gene and homozygous for the disrupted IL-4 gene has diminished B cell function. A method is disclosed for altering a B cell activity. The method includes administering a therapeutically effective amount of an agent that interferes with the interaction of IL-21 with an IL-21 receptor, thereby altering the B cell activity. A method is also disclosed for of treating a subject with Job's... |
| Pharmaceutical composition comprising progestogens and/or estrogens and 5-methyl-(6s)-tetrahydrofolate | 20080160004 | 20080703 |
| The present invention relates to a pharmaceutical composition which comprises progestogens, preferably drospirenone, estrogens, preferably ethinylestradiol and 5-methyl-(6S)-tetrahydrofolate, can be employed as oral contraceptive and moreover prevents disorders caused by folate deficiency in the consumers, in particular cardiovascular disorders and, after conception of the embryo, congenital malformations caused by folate deficiency such as, for example, neural tube defects, ventricular valve defects, urogenital defects, and cleft lip, jaw and palate, without masking the symptoms of vitamin B12 deficiency, and at the same time even in the case of homozygous or heterozygous polymorphism of methylenetetrahydrofolate reductase facilitates unimpaired utilizability of the folate component 5-methyl-(6S)-tetrahydrofolate by the body and thus its biological activity for preventing the abovementioned congenital malformations caused by folate deficiency. In addition, a prolonged protective effect... |
| Biometric analysis populations defined by homozygous marker track length | 20080140320 | 20080612 |
| An association or linkage between a genetic locus and a disease phenotype is identified by confirming that a test population comprising a plurality of humans is an index founder population (IFP). This is accomplished by determining that (i) the consanguinity rate of a test population is greater than ten percent and (ii) at least five percent of a portion of the autosomal genome, from which marker genotypes have been measured at an average marker density of at least 1 marker per 100 kilobases of genome in each human in at least fifty percent of the humans in the test population, is encompassed by homozygous marker tract lengths that are at least one megabase long. A genetic analysis between (i) the disease phenotype exhibited by the IFP,... |
| Identification of soybeans having resistance to phytophthora sojae | 20080127361 | 20080529 |
| The invention provides soybean plants having a novel determinant, Rps8, for resistance to Phytophthora sojae. The invention also provides methods for identifying germplasms that are either heterozygous or homozygous for Rps8 using marker assisted selection. Genetic markers with known chromosomal location that are associated with the Rps8 gene are used to confirm Rps8-derived Phytophthora sojae resistance in germplasms. Marker assisted selection also used when introgressing Rps8-derived soybean Phytophthora sojae resistance into non-resistant soybean germplasm or less resistant soybean germplasms.
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| Pthrp-based prediction and diagnosis of bone disease | 20080102465 | 20080501 |
| The invention provides methods of diagnosing bone disease and/or a susceptibility thereto, in an individual. The method includes screening a biological sample obtained from the individual for one or more genetic indicators of bone disease in said PTHrP gene of the individual, and diagnosing the individual based on a characterization of the genetic indictor(s) detected. A genetic indicator of the invention preferably includes a genetic segment of a PTHrP gene. More preferably, a genetic segment of a PTHrP gene includes a VNTR containing region. The invention further relates to transgenic non-human mammals for the study of bone disease and/or bone conditions or for drug discovery, lead optimization, identification of drug candidates & drug development, wherein a transgenic mammal of the invention may be (a) homozygous for... |
| Screening of a novel hepatic syndrome and its uses | 20080095858 | 20080424 |
| The invention concerns methods of screening for a hepatic syndrome occurring in the young adult and associating cholesterol biliary microlithiasis, intrahepatic cholestasis and several mutations of the MDR3 gene. The invention is also directed to methods for the treatment of said syndrome. The hepatic syndrome screening methods comprise detecting, from a nucleic acid sample extracted from peripheral blood mononucleate cells, heterozygous mutations of the MDR3 gene and/or homozygous mutations of the MDR3 gene that do not eliminate the expression of the protein expressed by the MDR3 gene, which has phosphatidylcholine carrier activity, in adult subjects associating cholesterol biliary microlithiasis and intrahepatic cholestasis.
... |
| Methods for treatment with bucindolol based on genetic targeting | 20080096982 | 20080424 |
| The present invention concerns the use of methods for evaluating bucindolol treatment for a patient, particularly one with heart failure. It concerns methods for determining whether to administer or prescribe bucindolol to a patient based on whether the patient is homozygous for the Arg 389 polymorphism in the β1-adrenergic receptor (AR).
... |
| Selection methods of self-pollination and normal cross pollination in poplation, variety of crops | 20080098492 | 20080424 |
| The invention relates to the field of crop selection and crop breeding, particularly to selection methods for breeding colony varieties of crops involving self-pollination and normal cross-pollination. Selection methods include crossing male parents with female parents to obtain crop populations, wherein the female parents are individual plants in a segregation population or self-crossed descendants of early segregation generations, said segregation population obtained by hybridizing pairs of parental plants with different desired characteristics to produce population F1, and then hybridizing pairs of F1 one more time. The male parents are homozygous breeding lines, varieties, F1, heterozygous plants in the segregation generations or individual plants produced in the same manner as for the female group. Crop populations and colony varieties of crops display characteristics of consistency, stability, specificity,... |
| Near reverse breeding | 20080098496 | 20080424 |
| Provided is a method for producing a homozygous non-human organism from a heterozygous non-human organism, which homozygous organism can be crossed to obtain a hybrid, comprising providing a heterozygous starting organism; allowing the organism to produce SDR-0 cells through meiosis, which cells originate from second division restitution; regenerating SDR-0 organisms from the SDR-0 cells; and producing the homozygous organism from the SDR-0 organisms thus obtained. Further provided is a method for producing a hybrid, comprising crossing a first homozygous organism that is produced according to the above method with a second homozygous organism. Also provided is a homozygous non-human organism and hybrid non-human organisms obtainable by these methods. In a preferred embodiment, the organisms are plants.
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| Method for the analysis of point mutations | 20080085839 | 20080410 |
| The invention relates to a method for determining point mutations by means of DNA microarrays and TIRF excitation. According to said method, bonding of nucleic acids to short DNA probes on a microarray is measured at different temperatures. Melting point curves are generated from the measured values and the difference in the melting point curves between the probe for the wild-type DNA and the probe for the corresponding mutated DNA is generated. The position of said curves makes it possible to unambiguously decide whether the point mutation is a homozygous DNA or a heterozygous DNA and what type of homozygosity it is.
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| Method for making homozygous genetic modifications | 20080078001 | 20080327 |
| Methods of generating modified embryos and mammals by introduction of donor cells into an early stage embryo are provided, such that the resulting embryo and animal generated therefrom has a significant contribution to all tissues from the donor cells and is capable of transmitting the donor cell DNA.
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| Cytochrome p450 genetic variations | 20070292870 | 20071220 |
| A primer set used to screen a polynucleotide sample to detect and identify variants in the Cytochrome P450 isoenzyme 2D6 (CYP2D6) gene. A method of screening a polynucleotide sample to detect and identify the presence of one or more than one variant in the CYP2D6 gene in the sample. A method of predicting the potential for altered metabolism of a substance, including one or more than one pharmaceutical drug, by a first individual compared to a second control individual, where the substance is metabolized by the CYP2D6 isoenzyme, and where the second control individual is homozygous for the wild type allele of the CYP2D6*1, SEQ ID NO:1. A method of screening a population to detect and identify the presence of one or more than one variant... |
| Homozygous male asparagus plant named 'nj22-34' | 20070266466 | 20071115 |
| A new and distinct asparagus (Asparagus officinalis Linn.) plant denoted ‘NJ22-34’ which is homozygous for male sex gene was developed through extensive breeding and selection. Asparagus hybrid ‘NJ22-34’ has many desirable traits including homogenous in male genes, good resistance to rust (Puccinia asparagi) and good field tolerance to asparagus root rot (Fusarium oxysporum) and asparagus crown rot (Fusarium moniliforme). Because ‘NJ22-34’ is a homozygous-male plant all its Fl progenies will be male plants. This invention relates to the plant and plant parts of ‘NJ22-34’. The invention further relates to hybrid asparagus seeds and plants produced by crossing asparagus plant ‘NJ22-34’ with another asparagus plant.
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| Use of vegf and homologues to treat neuron disorders | 20070249539 | 20071025 |
| The present invention relates to neurological and physiological dysfunction associated with neuron disorders. In particular, the invention relates to the involvement of vascular endothelial growth factor (VEGF) and homologues in the aetiology of motor neuron disorders. The invention further concerns a novel, mutant transgenic mouse (VEGFm/m) with a homozygous deletion in the hypoxia responsive element (HRE) of the VEGF promoter which alters the hypoxic upregulation of VEGF. These mice suffer severe adult onset muscle weakness due to progressive spinal motor neuron degeneration which is reminiscent of amyotrophic lateral sclerosis (ALS)—a fatal disorder with unknown aetiology. Furthermore, the neuropathy of these mice is not caused by vascular defects, but is due to defective VEGF-mediated survival signals to motor neurons. The present invention relates in particular to the... |
| Methods and compositions for homozygous gene inactivation using collections of pre-defined nucleotide sequences complementary chromosomal transcripts | 20070244031 | 20071018 |
| Methods and compositions for performing homozygous gene inactivation assays are provided. A feature of the subject methods is the use of a library of constructs that synthesize predefined nucleic acids, where each constituent predefined nucleic acid of the library is of known sequence that corresponds to a sequence of a chromosomal transcript, e.g., where a representative embodiment of a predefined nucleic acid is an expressed sequence tag (i.e., EST). In certain embodiments, the subject libraries are produced using an amplification protocol that preserves the sequence representation profile of the template nucleic acids. The subject methods and compositions find use in a variety of different applications, including the identification of novel diagnostic and therapeutic genetic targets.
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| Method for producing germ-line chimeric animal | 20070245424 | 20071018 |
| The present invention provides a method for efficiently producing a germ-line chimeric animal and a method for conveniently producing a heterozygous animal and a homozygous animal. Specifically, a chimeric animal wherein germ cells are derived from introduced ES cells is produced by injecting embryonic stem cells (ES cells) into an early embryo (blastocyst-stage embryo) incapable of forming germ cells because of a genetic factor. A homozygote is obtained by crossing a female heterozygote with a male heterozygote obtained from the obtained chimeric animals. The thus obtained chimeric animal is extremely useful for conducting gene function analyses and the like.
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| Methods for rapid genotype screening | 20070196853 | 20070823 |
| The present invention provides a method to rapidly provide genotype screening of a plurality of biological samples in a designated well of a microwell container for remote user by a screening laboratory. The screening method can be used to determine if a biological sample is heterozygous, homozygous or wild for a designated genetic sequence.
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| Method for detecting at least one designated genetic sequence | 20070190568 | 20070816 |
| The present invention provides a method to rapidly provide genotype screening of a plurality of biological samples in a designated well of a microwell container for remote user by a screening laboratory. The screening method can be used to determine if a biological sample is heterozygous, homozygous or wild for a designated genetic sequence.
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| Diagnostic method for identifying carriers of the marburg i variant of factor vii-activating protease (fsap) on the basis of differential modulation of fsap activity | 20070190574 | 20070816 |
| The present invention relates to a diagnostic method for identifying persons with genetically related hetero- or homozygous expression of the MR I variant of factor VII-activating protease (FSAP). The heterozygous or homozygous presence of an MR I polymorphism can be identified by a differential modulation of the FSAP activity.
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| Methods for breeding plants | 20070192888 | 20070816 |
| The present invention provides a method for generating a woody perennial breeding line, comprising: a) selecting one or more woody perennial plants comprising at least one allele associated with male sterility; b) selecting one or more woody perennial plants which are capable of hybridisation with the plant(s) selected in step (a) and which comprise at least one allele associated with at least one target inheritable trait; C) crossing the one or more plants selected in step (a) with the one or more plants selected in step (b); d) selecting progeny plants which have one or more desired traits and which comprise at least one allele associated with male sterility and at least one allele associated with the at least one target trait; e) selecting progeny plants... |
| Bovine abcg2 gene missense mutations and uses thereof | 20070118912 | 20070524 |
| A quantitative trait locus (QTL) affecting milk fat and protein concentration was localized to a 4cM confidence interval on chromosome 6 centered on the microsatellite BM143. The genes and sequence variation in this region were characterized, and common haplotypes spanning five polymorphic sites in the genes IBSP, SPP1, PKD2, and ABCG2 for two sires heterozygous for this QTL were localized. Expression of SPP1 and ABCG2 in the bovine mammary gland increased from parturition through lactation. SPP1 was sequenced, and all the coding exons of ABCG2 and PKD2 were sequenced for these two sires. The single nucleotide change capable of encoding a substitution of tyrosine-581 to serine (Y581S) in the ABCG2 transporter was the only polymorphism corresponding to the segregation status of all three heterozygous and 15... |
| Cloning multiple control sequences into chromosomes or into artificial centromeres | 20070065830 | 20070322 |
| Artificially synthesizing 29 homozygous cystic fibrosis core panel controls demonstrates placing multiple homozygous mutant sequences on the same single control DNA sequence to streamline quality control by minimizing extra control assays, time, and costly formatted test materials and testing all controls during every test. Any rare or unavailable reported DNA sequence can be PCR amplified using primer pairs synthesized with the designated mutation or variant sequence with paired adjacent upstream and downstream primers to amplify target sequences in total genomic DNA.
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| Double-muscling in mammals | 20070067859 | 20070322 |
| The invention relates to a gene (CDNA) encoding a bovine myostatin protein. The nucleic acid coding sequence is identified as SEQ ID NO:1 and the protein sequence is identified as SEQ ID NO:2. A mutant gene (SEQ ID NO:3) in which the coding sequence lacks an 11-base pair consecutive sequence (SEQ ID NO:11) of the sequence encoding bovine protein having myostatin has been sequenced. It has been shown that cattle of the Belgian Blue breed homozygous for the mutant gene lacking myostatin activity are double-muscled. A method for determining the presence of muscular hyperplasia in a mammal is described. The method includes obtaining a sample of material containing DNA from the mammal and ascertaining whether a sequence of the DNA encoding (a) a protein having the... |
| Therapeutiv preparation for hematopoietic disease | 20070059294 | 20070315 |
| The present invention provides therapeutic formulations for hematopoietic diseases comprising as effective ingredient, synoviolin which is reported to be isolated as a synovial cell protein and its gene, and therapeutic methods and such comprising the step of administering the protein or polynucleotide. The present invention also provides as models of hematopoietic diseases, animals whose synoviolin is homozygously deficient and cells derived from such animals; and additionally provides methods that use these models in the screening of therapeutic agents for hematopoietic diseases.
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| Metalloproteinase gene polymorphism in copd | 20070037156 | 20070215 |
| A method for genetic testing relating to chronic obstructive pulmonary disease (COPD), including testing for a single nucleotide polymorphism within the metal loproteinase-9 gene, an exon 6, codon 279 Gln/Arg polymorphism, where in presence of the variant polymorphism, particularly homozygous presence, is predictive of susceptibility to COPD. Further provided are methods of selecting patients for specific therapies and methods of drug development and discovery for treatment and prevention of COPD.
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| Method for producing a population of homozygous stem cells having a pre-selected immunotype and/or genotype, cells suitable for transplant derived therefrom, and materials and methods using same | 20070031859 | 20070208 |
| A method of producing a homogenous population of homozygous stem (HS) cells pre-selected for immunotype and/or genotype from donor cells is described herein. The invention relates to methods of using immunohistocompatible HS cells for diagnosis, therapeutic and cosmetic transplantation, and the treatment of various genetic diseases, neurodegenerative diseases, traumatic injuries and cancer. The invention further relates to methods for using histocompatible HS stem cells pre-selected for a non-disease genotype for prophylactic and therapeutic intervention including, but not limited to, therapeutic and cosmetic transplantation, and the treatment of various genetic diseases, neurodegenerative diseases, and cancer. Furthermore, the invention relates to a catalogued transplant depository of HS cells derived from multiple donors, each of the HS cells being homozygous for a unique HLA haplotype, for the purpose of... |
| Detecting recessive diseases in inbred populations | 20070031886 | 20070208 |
| Techniques of using statistical analysis of genetic data to determine likely markers for a recessive genetic disease or trait. One embodiment of these techniques includes the steps of obtaining actual genotype data for one or more affected people with the genetic disease or trait in a population, obtaining estimated genotype data for the population, and analyzing the actual and estimated genotype data to find a region in genomes of the affected people that includes markers exhibiting particular homozygous pairs of alleles more frequently than would occur randomly.
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| Inbred miniature swine and uses thereof | 20070033668 | 20070208 |
| The invention provides a swine which is homozygous for a major histocompatibility complex haplotype and at least 60% homozygous at all other genetic loci and such animal is propagatable, and a cell or an organ derived therefrom. The invention also provides a method for providing a swine which is homozygous at swine leukocyte antigens (SLA) A, B, C, DR, and DQ, and in which at least 60% of all other genetic loci are homozygous, as well as a method of inducing tolerance in a recipient mammal of a first species to a graft from a donor mammal of a second species.
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| Model of autoimmune disease and methods for identifying agents against autoimmune disease | 20070020673 | 20070125 |
| Homozygouse knock-out mice lacking the Aiolos gene are shown to exhibit multiple phenotypes in common with humans suffering from the autoimmune disease Systemic Lupus Erythematosus (SLE). When Aiolos −/− mice are crossed with homozygous knock out mice lacking the OBF-1 transcription factor gene, resultant double knock out mice lack all signs of SLE. Methods of screening for agents active against autoimmune diseases, for example SLE are provided. In vitro methods include screening for antagonists of OBF-1, screening for agents which inhibit binding of OBF-1 to oct-1 or oct-2, screening for agonists or antagonists of Aiolos protein and screening for agents which upregulate expression of Aiolos or downregulate expression of OBF-1. Also disclosed are methods of screening using knock-out mice and B cells from knock-out mice.
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| Use of corn with low gelatinization temperature for production of fermentation-based products | 20060292677 | 20061228 |
| The present invention provides a method of producing fermentation-based products, such as ethanol and citric acid, from corn in which the starch has a low gelatinization temperature, particularly a waxy maize plant which is homozygous or heterozygous for the recessive sugary-2 allele.
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| Pharmaceutical composition comprising progestogens and/or estrogens and 5-methyl- (6s)-tetrahydrofolate | 20060293295 | 20061228 |
| The present invention relates to a pharmaceutical composition which may comprise progestogens, preferably drospirenone, estrogens, preferably ethinylestradiol and 5-methyl-(6S)-tetrahydrofolate, which may be employed as oral contraceptive and moreover prevents disorders caused by folate deficiency in the consumers, in particular cardiovascular disorders and, after conception of the embryo, congenital malformations caused by folate deficiency such as, for example, neural tube defects, ventricular valve defects, urogenital defects, and cleft lip, jaw and palate, without masking the symptoms of vitamin B12 deficiency, and at the same time even in the case of homozygous or heterozygous polymorphism of methylenetetrahydrofolate reductase facilitates unimpaired utilizability of the folate component 5-methyl-(6S)-tetrahydrofolate by the body and thus its biological activity for preventing the abovementioned congenital malformations caused by folate deficiency. In addition, a prolonged... |
| Nucleotide sequences mediating male fertility and method of using same | 20060288440 | 20061221 |
| Nucleotide sequences mediating male fertility in plants are described, with DNA molecule and amino acid sequences set forth. Promoter sequences and their essential regions are also identified. The nucleotide sequences are useful in mediating male fertility in plants. In one such method, the homozygous recessive condition of male sterility causing alleles is maintained after crossing with a second plant, where the second plant contains a restoring transgene construct having a nucleotide sequence which reverses the homozygous condition. The restoring sequence is linked with a hemizygous sequence encoding a product inhibiting formation or function of male gametes. The maintainer plant produces only viable male gametes which do not contain the restoring transgene construct. Increase of the maintainer plant is also provided by self-fertilization, and selection for seed... |
| Dilution of genetic traits | 20060275276 | 20061207 |
| Undesirable genetic traits, such as resistance to toxin, can be inhibited or reversed by introducing sexually compatible individuals substantially homozygous for the sensitive allele, such as the wild type, into the target population.
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| Transgenic rice line producing high level of flavonoids in the endosperm | 20060272053 | 20061130 |
| The present invention aims to develop transgenic rice that produces high levels of flavonoids in the entire endosperm. A rice variety, Oryza sativa japonica cv. Hwa-Young, is transformed with maize C1 and R-S genes that together activate most structural genes in the flavonoid biosynthetic pathway. Expression of the C1 and R-S transgenes is endosperm-specific for using the promoter of a 13-kD rice prolamin gene that specifically expresses throughout the endosperm. With variation in pigmentation among 27 independent C1/R-S transgenic lines, the T1 kernels of most lines are light brown and apparently darker than kernels of the wild type as well as rice plants transformed with vector alone. The T2 and T3 kernels of homozygous transgenic lines become darker in pigmentation and smaller in size than T1... |
| Detection of aneuploidy | 20060263785 | 20061123 |
| A method for detecting aneuploidy of a chromosome comprises: a) obtaining a biological sample from a patient; b) preparing DNA from said sample for subsequent analysis; c) subjecting the DNA of said sample to a multiplex PCR reaction, using a multiplicity of markers, at least two per said chromosome of which have a heterozygosity frequency sufficiently high to minimise the possibility that, if two alleles of that chromosome would normally be present in a normal diploid individual, those two alleles would both comprise the same variant of said STR (i.e. would be homozygous); d) comparing the results of said multiplex reaction with the results which might be expected from a normal diploid individual; and e) thereby assessing the probability that said patient might be suffering from... |
| Methods for increasing the yield of fermentable sugars from plant stover | 20060263860 | 20061123 |
| Methods for increasing yield of fermentable sugars from plant stover are provided. The methods include using plants homozygous for two brown midrib mutations, bm1 and bm3. The methods also include using plants homozygous for a mutation in a gene that results in reduced cinnamyl alcohol dehydrogenase activity, and a mutation in a gene that results in reduced 5-hydroxyconiferaldehyde/5-hydroxyconiferyl alcohol O-methyltransferase activity. The methods also include using transgenic plants that have reduced cinnamyl alcohol dehydrogenase activity and reduced 5-hydroxyconiferaldehyde/5-hydroxyconiferyl alcohol O-methyltransferase activity in comparison with wild-type plants.
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| Methods for evaluating genetic susceptibility and therapy for chronic inflammatory diseases | 20060264393 | 20061123 |
| The invention discloses a knockout mouse that is homozygous for a RUNX3 null allele, as a novel model for chronic inflammatory disease. The present invention provides methods for treating T cell-related inflammatory conditions by cell therapy, gene therapy or antisense for up regulating or down regulating RUNX3. The invention further relates to methods of diagnosing and assessing predisposition to chronic inflammatory diseases. The present invention further provides methods for testing agents for effectiveness in treating and/or preventing diseases associated with chronic inflammatory or autoimmune conditions.
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| Method for screening molecules that restore nod1 activity in cells containing an nod2 mutation that reduces or eliminates nod1 activity | 20060251659 | 20061109 |
| A method for identifying a molecule that restores Nod1 activity in cells which contain a Nod2 mutation that reduces or eliminates Nod1 activity. Nod2/CARD15 is the first characterized susceptibility gene in Crohn's disease. The Nod2 1007fs (Nod2fs) frameshift mutation is the most prevalent in Crohn's disease patients. Muramyl dipeptide (MDP) from bacterial peptidoglycan is the minimal motif detected by Nod2 but not by Nod2fs. The inventors investigated the response of human peripheral blood mononuclear cells (PBMCs) from Crohn's disease patients not only to MDP, but also to several other muramyl peptides. Unexpectedly, it was observed that patients homozygous for the Nod2fs mutation were totally unresponsive to MurNAc-L-Ala-D-Glu-mesoDAP (M-TriDAP), the specific agonist of Nod1. Accordingly, Gram-negative bacterial peptidoglycan, which can be detected by both Nod1 and Nod2,... |
| Methods and vectors for making knockout animals | 20060242726 | 20061026 |
| The present invention includes methods for integrating a modifying polynucleotide into a target polynucleotide in a cell, or instance, a fish cell or a mouse cell, and methods for making chimeric animals, heterozygous animals, and homozygous animals that are chimeric, heterozygous, or homozygous, respectively, for a modifying polynucleotide integrated into a target polynucleotide. The present invention also includes vectors and methods of using the vectors for integrating a modifying polynucleotide into a target polynucleotide in a cell, for instance, a fish cell or a mouse cell.
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| Sequences used to identify if a female mammal comprises a mutation in the alpha-fetoprotein sequence(s) or a partial or total deletion of the alpha-fetoprotein sequence(s) | 20060234278 | 20061019 |
| The present invention is related to specific sequences, preferably present in a diagnostic kit to identify if a female mammal comprises in her genome a mutation in the alpha-fetoprotein sequence or a partial or total deletion of this alpha-fetoprotein sequence, present heterozygously or homozygously (on both allele).
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| Differentiating homozygous, heterozygous and wild-type alleles using a multiplexed hybridization-mediated assay | 20060228744 | 20061012 |
| Described are methods of assay design and assay image correction, useful for multiplexed genetic screening for mutations and polymorphisms, including CF-related mutants and polymorphs, using an array of probe pairs (in one aspect, where one member is complementary to a particular mutant or polymorphic allele and the other member is complementary to a corresponding wild type allele), with probes bound to encoded particles (e.g., beads) wherein the encoding allows identification of the attached probe. The methods relate to avoiding cross-hybridization by selection of probes and amplicons, as well as separation of reactions of certain probes and amplicons where a homology threshold is exceeded. Methods of correcting a fluorescent image using a background map, where the particles also contain an optical encoding system, are also disclosed.
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| Mammalian tumor susceptibility genes and their uses | 20060193848 | 20060831 |
| TSG101 is a tumor susceptibility gene whose homozygous functional knock out in fibroblasts leads to transformation and the ability of these cells to form metastatic tumors in nude mice. The cellular transformation that results from inactivation of TSG101 is reversible by restoration of TSG101 function. Decreased expression of TSG101 is associated with the occurrence of certain human cancers, including breast carcinomas. The TSG101 nucleic acid compositions find use in identifying homologous or related proteins and the DNA sequences encoding such proteins; in producing compositions that modulate the expression or function of the protein; and in studying associated physiological pathways. In addition, modulation of the gene activity in vivo is used for prophylactic and therapeutic purposes, such as treatment of cancer, identification of cell type based on... |
| Methods for identifying dna copy number changes | 20060194243 | 20060831 |
| Methods and computer software products for identifying changes in genomic DNA copy number are disclosed. Methods for identifying homozygous deletions and genetic amplifications are disclosed. Genomic DNA is amplified generically and amplified sample is hybridized to an expression array. The expression array comprises probes to regions of genes that are expressed. The probes are complementary to genomic sequences found in mRNAs. Signal intensity is correlated to copy number. The methods may be used to detect copy number changes in cancerous tissue compared to normal tissue. The methods may be used to diagnose cancer and other diseases associated with chromosomal anomalies.
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| Method for preparing anti-mif antibodies | 20060191024 | 20060824 |
| The specification provides methods of preparing high-affinity antibodies to a macrophage migration inhibitory factor (MIF) in animals in which the MIF gene has been homozygously knocked-out (MIF−/−). Also provided are methods of preparing hybridomas which produce the anti-MIF antibodies, methods of administering the antibodies to treat inflammatory or cancerous conditions and/or diseases modulated by MIF, as well as compositions comprising said high-affinity anti-MIF antibodies.
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| Method for the rapid selection of homozygous primary cell lines for the production of transgenic animals by somatic cell nuclear transfer | 20060191025 | 20060824 |
| The present invention provides for the production of homozygous primary cells that carry a specific transgenic integration of interest on both chromosomes by bypassing breeding. These cell lines can they be used for the accelerated production of homozygous transgenic animals by somatic cell nuclear transfer. The invention is thus useful in the production of transgenic ungulate animals capable of producing desired biopharmaceuticals in their milk at higher yield than a comparable heterzygote. By combining the selection techniques of the current invention with somatic cell nuclear transfer it can be applied to large animals, where there is a strong need to shorten the time to homozygosity.
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| Doubled haploid cells, embryos and plants | 20060185033 | 20060817 |
| Methods for producing homozygous plants, seeds, and plant cells are provided. Methods of forming haploid tissue and then doubling the chromosomes to form doubled haploid cells are provided. Also provided are methods of transformation.
... |
| Methods for treatment with bucindolol based on genetic targeting | 20060177838 | 20060810 |
| The present invention concerns the use of methods for evaluating bucindolol treatment for a patient, particularly one with heart failure. It concerns methods for determining whether to administer or prescribe bucindolol to a patient based on whether the patient is homozygous for the Arg 389 polymorphism in the β1-adrenergic receptor (AR).
... |
| Reverse breeding | 20060179498 | 20060810 |
| A method for efficiently producing homozygous organisms from a heterozygous non-human starting organism, comprising providing of a heterozygous starting organism; allowing the starting organism to produce haploid cells; creating homozygous organisms from the haploid cells thus obtained; and selecting the organisms having the desired set of chromosomes, wherein during production of the haploid cells no recombination occurs in order to obtain a limited number of genetically different haploid cells. Recombination can also be prevented or suppressed.
... |
| Use of fc receptor polymorphisms as diagnostics for treatment strategies for immune-response disorders | 20060165653 | 20060727 |
| Methods for the use of Fc gamma receptor (FcγR) polymorphisms as a diagnostic for intervention with interleukin-2 (IL-2) immunotherapy are provided. The methods comprise detecting the allelic pattern of an FcγRIIIA gene or FcγRIIA gene of an individual, and determining whether the allelic pattern is predictive of a positive therapeutic response to IL-2 immunotherapy. The presence of the FcγRIIIA 158F/F homozygous genotype, and/or the presence of one or both copies of the FcγRIIIA 48L allele, and/or the presence of one or both copies of the FcγRIIA 131R allele is predictive of a positive therapeutic response to IL-2 immunotherapy, and therefore indicative of medical intervention with IL-2 immunotherapy for treatment of an immune disorder. The diagnostic method finds use in identifying those individuals whose immune function can... |
| Methods for identifying dna copy number changes | 20060134674 | 20060622 |
| Methods of identifying allele-specific changes in genomic DNA copy number are disclosed. Methods for identifying homozygous deletions and genetic amplifications are disclosed. An array of probes designed to detect presence or absence of a plurality of different sequences is also disclosed. The probes are designed to hybridize to sequences that are predicted to be present in a reduced complexity sample. The methods may be used to detect copy number changes in cancerous tissue compared to normal tissue. The methods may be used to diagnose cancer and other diseases associated with chromosomal anomalies.
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| F066 transgenic mice that express pathogenic mutants of the sca2 gene | 20060130165 | 20060615 |
| The present invention is related with the neurobiology and the transgenic animals, more specifically with obtaining a model to study the SCA2 genetic disease. The genome of one mice line has been modified through the introduction of a DNA segment that contains the necessary information for the synthesis of the human ataxin 2. In particular the invention is related with the transgenic mice F066 and the cellular lines able to express the human sca2 gene under the regulation of its self promoter. The F066 transgenic mice reproduce the features of the disease. The homozygous transgenic mouse line for the new gene was obtained through matting. This transgenic line is useful to study the mechanism that produce the disease and also will permit to prove new therapeutics... |
| Diagnostic test for collie eye anomaly | 20060115843 | 20060601 |
| The invention relates to a method for identifying dogs which are genetically normal, heterozygous for, or homozygous for the mutation primarily responsible for Collie eye anomaly (CEA). The method comprises the steps of obtaining a biological sample from a dog and testing DNA in the biological sample for the presence or absence of a 7.8 kilobase deletion within chromosome 37 in which the CEA mutation is located. No deletion is indicative of a normal dog. A deletion on one allele of chromosome 37 is indicative of a dog that is heterozygous for the CEA mutation. A deletion in both alleles of chromosome 37 are indicative of a dog that is homozygous for the CEA mutation. Also provided is a kit for identifying a dog as normal,... |
| Assay methods for identifying modulators of opsdl3 and transgenic knockouts | 20060117396 | 20060601 |
| Methods for treating or alleviating pain by treating a subject in need thereof with an agonist of OPSDL3 activity or expression. Further provided are screening methods for identifying agents capable of activating OPSDL3, and transgenic non-human animals which homozygous for deletion of the endogenous OPSDL3 gene and/or comprise a human OPSDL3 gene.
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| Method for generating an animal homozygous for a genetic modification | 20060085866 | 20060420 |
| Methods of generating modified embryos and mammals by introduction of donor cells into an early stage embryo are provided, such that the resulting embryo and animal generated therefrom has a significant or complete contribution to all tissues from the donor cells and is capable of transmitting the donor cell DNA.
... |
