Abstract: The present invention provides methods for predicting a patient's risk of an adverse drug reaction to a thiopurine drug such as AZA or 6-MP by genotyping the patient for a polymorphism in the gene encoding ITPase (ITPA). The present invention also provides methods for predicting a patient's risk of an adverse drug reaction to a thiopurine drug by determining a level of ITPase activity or ITP in a sample from the patient. The present invention further provides methods for optimizing therapeutic efficacy in a patient receiving a thiopurine drug by determining whether the patient should be given an alternative drug based on the presence or absence of a polymorphism in the ITPA gene.

Abstract: Nucleic acid molecules comprising a SNP site selected from the group consisting of position 1296 of bovine uterine milk protein (UTMP) coding sequence (SEQ ID NO: 1), position 213 of bovine signal transducer and activator of transcription (STAT1) coding sequence (SEQ ID NO: 2), position 8514 of the osteopontin (OPN) gene (SEQ ID NO: 3), or position 1070 of a bovine lectin-like oxidized LDL receptor (OLR1) coding sequence (SEQ ID NO: 4), which SNP indicates a desirable milk production trait in a dairy cattle. Also disclosed are an array or a kit comprising the same, a method for detecting the SNPs, a method for progeny testing of cattle, and a method for selectively breeding of cattle.

Abstract: Described herein are novel SCCmec right extremity junction (MREJ) sequences for the detection and/or identification of methicillin-resistant Staphylococcus aureus (MRSA). Disclosed are methods and compositions based on DNA sequences for the specific detection of MREJ sequences designated types xi, xii, xiii, xiv, xv, xvi, xvii, xviii, xix, and xx for diagnostic purposes and/or epidemiological typing.

Abstract: The present invention encompasses methods, assays and kits for the diagnosis, screening and identification of Turner syndrome and other disorders of sexual differentiation in a human using single nucleotide polymorphisms present on the X and Y chromosomes.

Abstract: Nucleic acid molecules comprising a SNP site at position 1296 of bovine uterine milk protein (UTMP) coding sequence (SEQ ID NO: 1), which SNP indicates a desirable productive life in a dairy cattle. Also disclosed are an array or a kit comprising the same, a method for detecting the SNPs, a method for progeny testing of cattle, and a method for selectively breeding of cattle.

Abstract: 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 homozygous sires for the QTL in the Israeli and US Holstein populations.

Abstract: The present invention is based on the discovery of genetic polymorphisms that are associated with cardiovascular disorders, particularly acute coronary events such as myocardial infarction and stroke, and genetic polymorphisms that are associated with responsiveness of an individual having a cardiovascular disorder to treatment of the disorder with statin. In particular, the present invention relates to nucleic acid molecules containing the polymorphisms, 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: A method for predicting a negative symptom change in a subject during drug therapy is provided. The method comprises isolating genomic DNA from a sample of the subject, and genotyping a T5988C marker of GRIN2B gene. A GRIN2B 5988 T/T genotype is predictive of a negative symptom improvement in the subject in response to drug therapy. The drug therapy may be clozapine therapy. Also provided is a method of identifying a polymorphism in a nucleotide sequence of interest that is predictive of response to drug therapy comprising the steps of assessing negative symptom improvement in a plurality of subjects during the course of drug therapy, isolating a sample comprising DNA from each subject, genotyping one or more nucleotide sequences of interest in the DNA of each subject to identify one or more polymorphisms that exist in the one or more nucleotide sequences of interest, wherein correlation of a significant improvement of negative symptoms with one or more polymorphisms is predictive of response to drug therapy.

Abstract: This invention provides methods to predict the degree of elevation of serum cholesterol levels in patients treated with immunosuppressive medication. This invention also provides treatment strategies based on these predictions and kits to carry out these methods.

Abstract: Aspects of the present invention concern the identification of several methods to analyze the genes that are modulated in normal human bronchial epithelial (NHBE) cells after exposure to cigarette smoke condensates (CSC) or cigarette smoke (CS). Embodiments described herein include methods to identify a gene that is modulated in response to exposure to CSC or CS, methods to identify tobacco products that have a reduced potential to contribute to tobacco-related disease, methods to make tobacco products that have a reduced potential to contribute to a tobacco-related disease, methods to identify a subject's predilection to acquire a tobacco related disease, the use of particular genes as biomarkers for tobacco-related disease, and patterns of gene expression or genetic signatures that are unique to each particular tobacco product.

Abstract: A method for assessing the tenderness of meat from an animal, comprising the step of testing the animal for the presence or absence of a genetic marker selected from the group consisting of: (1) an allele of the gene encoding calpastatin (CAST) associated with peak-force variation or genetic variation located other than in the CAST gene which shows allelic association with the CAST allele; and (2) an allele of the gene encoding lysyl oxidase (LOX) associated with instron compression of the semitendinosis muscle or genetic variation located other than in the LOX gene which shows allelic association with the LOX allele.

Abstract: The present invention concerns novel methods of selecting or matching a sport or sporting event to an individual (e.g. a sprint/power sport or an endurance sport) and predicting athletic performance, the methods involving assessing ACTN3 genotype. In alternative embodiments, training regimens may be optimally designed for athletes by assessing the ACTN3 genotypes. Certain embodiments concern combining the assessment of the ACTN3 genotype with other known fitness-related genes to better assess the athletic potential of an individual. In addition, the genotypic analysis of the ACTN3 gene may be combined with physiological tests, physical measurements and/or psychological assessments to more optimally design a training regimen for an individual athlete.

Abstract: An gene was identified as a RA disease susceptibility gene on Human Chromosome 8, the gene coding a protein that has an amino acid sequence shown in SEQ. ID NO. 1 and that has such mutation that glycine is inserted as a 269th amino acid in the sequence. Moreover, it was found that mutation of the gene and the protein relate to onset of RA. Achieved is a method of evaluating with high accuracy the onset or onset possibility of RA by using the mutation.

Abstract: A method of identifying at least a nucleic acid molecule fragment to which a protein of interest binds, comprising: (i) preparing at least one nucleic acid molecule fragment to which a protein binds; (ii) isolating the 5? terminus and the 3? terminus of the nucleic acid fragment(s) and linking the 5? terminus and 3? terminus to create the at least one ditag; (iii) sequencing the ditag; and (iv) mapping the ditag sequence(s) to the genome.

Abstract: In the examination of obesity or leanness, the examination is based on the expression level of the MCP-1 gene or the MCP-1 protein in a tissue or cell analyte, or on the polymorphism in the gene. In the evaluation of compounds, including screening for therapeutic agents for obesity or leanness, the properties of the MCP-1 gene or the MCP-1 protein are utilized to carry out the evaluation.

Abstract: Novel splice variants as diagnostic markers, preferably membrane-bound. The novel variants according to the present invention may optionally be used for diagnosis of Marker-detectable disease as described herein, optionally through immunohistochemistry.

Abstract: The present invention provides a method of screening pigs to identify those which have a genetic predisposition to have a thinner or thicker backfat thickness by assaying the pattern of the five single nucleotide polymorphisms in the HSP70.2 gene that is associated with backfat thickness.

Abstract: The present invention concerns the V617F variant of the protein-tyrosine kinase JAK2, said variant being responsible for Vaquez Polyglobulia. The invention also relates to a first intention diagnostic method for erythrocytosis and thrombocytosis allowing their association with myeloproliferative disorders, or to the detection of the JAK2 V617F variant in myeloproliferative disorders allowing their reclassification in a new nosological group.