Abstract: The present invention provides methods of diagnosing and/or predicting autism spectrum disorder comprising determining the presence of microdeletions and microduplications on chromosomes 15 and 16.

Abstract: The present invention relates to DNA sequences associated with human memory performance. It also provides methods for (i) screening for diseases and pathological conditions affecting human memory, (ii) identifying agents useful for treatment of diseases and pathological conditions affecting human memory, and (iii) agents and compositions useful for treatment of diseases and pathological conditions affecting human memory.

Abstract: The invention relates to diagnostic methods to predict whether a subject is predisposed for acquiring a disease or to predict the therapy responsiveness of an individual patient. Provided is a method for determining whether a subject is predisposed for developing an autoimmune disease, comprising determining in a sample isolated from said subject the amount of intact genes, or gene products thereof, of the Fc?RII/Fc?RIII gene cluster, said gene cluster comprising the FCGR2C, FCGR3A, FCGR2A and FCGR3B genes encoding an activating Fc?R, and FCGR2B encoding an inhibitory Fc? R; and correlating said amount to the amount observed in a healthy population. Also provided is a method to predict the responsiveness of a subject to therapy with intravenous immunoglobulin (IVIg) therapy or a monospecific biological, such as a humanized or human monoclonal antibody or a chimeric molecule, comprising the C-terminal Fc-tail of IgG.

Abstract: A high accuracy method for detecting a biological-related substance is provided by which an abnormal state, such as the adhesion of dust, the reduction of a sample solution, or the like can be judged. Means for detecting a light emitted by the portion for light detection after dividing the light into at least a plurality of wavelength zones is provided. One of the plurality of wavelength zones includes substantially the same wavelength zone as that of the component of the excitation light. The light intensity of the component of the excitation light is detected and it is compared with a predetermined intensity (threshold). A highly accurate fluorescence measurement can be realized, by which the abnormality of a sample can be judged.

Abstract: Provided herein are methods to discover and use single nucleotide polymorphisms (SNP) for determining the genotype of a horned/polled ruminant subject. The present invention further provides specific nucleic acid sequences, SNPs, and SNP patterns that can be used for determining the genotype of a horned/polled ruminant subject.

Abstract: The present invention provides a method of predicting the risk of a patient for developing adverse drug reactions, particularly SJS or TEN. It was discovered that an HLA-B allele, HLA-B* 1502, is associated with SJS/TEN that is induced by a variety of drugs. The correlation with HLA-B* 1502 is most significant for carbamazepine-induced SJS/TEN, wherein all the patients tested have the HLA-B* 1502 allele. In addition, another HLA-B allele, HLA-B*5801, is particularly associated with SJS/TEN induced by allopurinol. Milder cutaneous reactions, such as maculopapular rash, erythema multiforme (EM), urticaria, and fixed drug eruption, are particularly associated with a third allele, HLA-B *4601. For any of the alleles, genetic markers (e.g., HLA markers, microsatellite, or single nucleotide polymorphism markers) located between DRB1 and HLA-A region of the specific HLA-B haplotype can also be used for the test.

Abstract: The present invention relates to the identification of single nucleotide polymorphisms (SNPs) in urotensin II (UTS2) and urotensin 2 receptor (UTS2R) genes and their associations with beef marbling score (BMS), ribeye area (REA), amounts of saturated (rSFA) and monounsaturated (rMUFA), and ?9 desaturase activity R2=16:1 to 16:0. The invention further encompasses methods and systems, including network-based processes, to manage the SNP data, haplotype data and other data relating to specific animals and herds of animals, veterinarian care, diagnostic and quality control data and management of livestock which, based on genotyping, have predictable meat quality traits, husbandry conditions, animal welfare, food safety information, audit of existing processes and data from field locations.

Abstract: 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.

Abstract: The present invention is based on the discovery of genetic polymorphisms that are associated with psoriasis and related pathologies. In particular, the present invention relates to nucleic acid molecules containing the polymorphisms, including groups of nucleic acid molecules that may be used as a signature marker set, such as a haplotype, a diplotype, variant proteins encoded by such nucleic acid molecules, reagents for detecting the polymorphic nucleic acid molecules and proteins, and methods of using the nucleic acid and proteins as well as methods of using reagents for their detection.

Abstract: The present invention relates to single nucleotide polymorphisms (SNPs) in the leptin promoter, and to methods for the identification of animals carrying specific alleles of these SNPs that are associated with circulating leptin levels, feed intake, growth rate, body weight, carcass merit and carcass composition. The present invention provides oligonucleotides that can be used as primers and/or probes to amplify and/or detect these SNPs, and provides methods for selecting and grouping animals, in particular bovines, according to genotype.

Abstract: Aspects of the disclosure are generally directed to probes and probe compositions for detecting or quantifying a target. One aspect provides a method for selectively hybridizing a probe to a polynucleotide by contacting a sample containing a first and second polynucleotide with a probe. The probe includes a number of nucleotides complementary to the first or second polynucleotide in the region of mismatch between the first and second polynucleotides. Another aspect provides arrays including the disclosed probes and methods of using the arrays and the probes.

Abstract: Genetic markers associated with fatty acid content in meat products from animals, particularly Angus cattle, are described. The genetic markers are located in the thioesterase-encoding region of the fatty acid synthase gene. The markers allow animals to be characterized for breeding or for identification purposes to indicate animals likely to have a distribution of fatty acids that are healthier, thus generating improved meat products.

Abstract: Using the BICD1 gene as a method for diagnosing myopia and/or myopia related complications is provided. The method includes obtaining a biological sample from a subject, and determining at least one SNP genotype in the BICD1 gene in the biological sample, wherein the presence of the SNP genotype indicates that the subject is susceptible to myopia. The SNP genotype is selected from the group consisting of SNPs rs7966276, rs1151029, rs2650122, and rs10771923. In addition, the present invention also provides a method of screening a material for preventing, treating myopia, and a method of assessing a subject for probability of response to a myopia therapeutic agent.

Abstract: An isolated nucleic acid molecule comprising a polymorphic site selected from the group consisting of positions 164, 269, 284, 407 and 989 of SEQ ID NO: 1, an array or a kit comprising the same. Also provided are a method for detecting single nucleotide polymorphism (SNP) in bovine proteinase inhibitor (PI) gene, a method for haplotyping a bovine cell, a method for progeny testing of cattle based on said haplotyping, a method for selectively breeding of cattle based on haplotyping a parent animal. The present invention further provides a method for testing a dairy cattle for its milk production trait, comprising haplotyping its cells, wherein a cattle having haplotypes 1, 3, 4 or 5 indicates that the cattle has desirable milk production trait. Haplotype 1 indicates that the cattle has the most desirable milk production trait.

Abstract: The present invention relates to the identification of single nucleotide polymorphisms (SNPs) in a ubiquinol-cytochrome c reductase core protein I (UQCRC1) gene and its associations association with fat deposition and fatty acid composition. The invention further encompasses methods and systems, including network-based processes, to manage the SNP data, haplotype data and other data relating to specific animals and herds of animals, veterinarian care, diagnostic and quality control data and management of livestock which, based on genotyping, have predictable meat quality traits, husbandry conditions, animal welfare, food safety information, audit of existing processes and data from field locations.

Abstract: A specific, non-synonymous SNP in the Prnp gene encoding the bovine prion protein affects the susceptibility of bovine animals to bovine spongiform encephalopathy (BSE). Depending on the number of octapeptide repeat units present in the Prnp gene, the position of the SNP is either nucleotide 631 of exon 3 (codon 211) when the Prnp gene comprises six octapeptide repeat region sequences, nucleotide 607 of exon 3 (codon 203) when the Prnp gene comprises five octapeptide repeat region sequences, or nucleotide 655 of exon 3 (codon 219) when the Prnp gene comprises seven octapeptide repeat region sequences. Alleles of the bovine Prnp wherein the SNP at these positions is lysine (K) at the corresponding amino acids (i.e., 211, 203 or 219) in the bovine prion protein are all indicative of increased susceptibility to BSE in comparison to alleles which encode glutamic acid (E) at the same position.

Abstract: Provided herein are libraries of nucleic acid species each comprising a transcription unit having a promoter region operatively linked to a coding sequence. The coding sequence of each nucleic acid species encodes a RNA cleavage substrate comprising a unique compomer species and a cleavage site. Each compomer species has a molecular mass distinguishable from the molecular mass of other compomer species in the library, and cleavage at a cleavage site releases a polynucleotide comprising the compomer species from the RNA cleavage substrate.

Abstract: The invention concerns sensitive methods to measure mRNA levels in biopsied tumor tissues, including archived paraffin-embedded biopsy material. The invention also concerns breast cancer gene sets important in the diagnosis and treatment of breast cancer, and methods for assigning the most optimal treatment options to breast cancer patient based upon knowledge derived from gene expression studies.

Abstract: The present invention is related to the haplotypes of human Transforming Growth Factor Beta1 (TGF?1) and prediction of susceptibility for immunological disorders. More particularly the present study is the first study in any population, identifying novel protective and risk haplotypes of the TGF?1 gene The present invention also relates to allelic variants of the human Transforming Growth Factor Beta1 (TGF?1) gene. The said invention also provides primers and methods suitable for the detection of these haplotypes and allelic variants for the prediction of an individual's disease susceptibility, and/or the genetic analysis of the TGF?1 gene for immunological disorders, particularly asthma. A vital aspect of the present study provides a method for predicting susceptibility of individuals to immunological disorders, particularly asthma.

Abstract: The present invention relates to methods and compositions to evaluate or assess the response of a subject to particular therapeutic treatment. More particularly, the invention provides methods to determine the response of subjects, or to adapt the treatment protocol of subjects treated with therapeutic antibodies. The invention is based on a determination of the FCGR3A genotype of a subject. The invention can be used for patients with malignancies, particularly lymphoma, and is suited to select best responders and/or adjust treatment condition or protocol for low responders.