Abstract: A method of detecting a single nucleotide polymorphism includes providing a first template polynucleotide, a second polynucleotide comprising a first and second sequence (complementary to a first portion of the first polynucleotide), and a third polynucleotide (complementary to a second portion of the first polynucleotide). The first, second and third polynucleotides are annealed, ligated and optionally, these steps are repeated. A fourth polynucleotide, which is essentially complementary to at least a portion of the first sequence, coupled to a first indicator is then provided. A fifth and/or sixth polynucleotide is provided. The fifth polynucleotide is essentially identical to at least a portion of the second sequence of the second polynucleotide and/or to at least a portion of the third polynucleotide. The sixth polynucleotide is essentially complementary to a portion of the second sequence of the second polynucleotide. The third or fifth polynucleotides may be coupled to a second indicator.

Abstract: The invention features improved nucleic acids and methods for expression profiling of mRNAs, identifying and profiling of particular mRNA splice variants, and detecting mutations, deletions, or duplications of particular exons or other splice variants, e.g., alterations associated with a disease such as cancer, in a nucleic acid sample, e.g., a biological sample or a patient sample.

Abstract: A DNA chip for diagnosis of genitourinary infection, and in particular, a DNA chip for diagnosis of genitourinary infection on which oligonucleotide probes for detecting fourteen genitourinary infection pathogens are immobilized is provided. The DNA chip for diagnosis of genitourinary infections may accurately and rapidly analyze infections of fourteen genitourinary infections including multiple infections in various samples with high sensitivity, high specificity, and high reproducibility. Accordingly, the DNA chip may be used for diagnosis and treatment of genitourinary infections in primary health care institutions.

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: Single nucleotide polymorphic sites of the bovine HSP genes are associated with improved fertilization rate and/or improved embryo survival rate in cattle. Nucleic acid molecules, kits, methods of genotyping and marker assisted bovine breeding methods based on these SNPs are disclosed.

Abstract: The present invention provides a probe for detecting a mutation in the ALK gene, which is at least one fluorescently labeled oligonucleotide selected from the group consisting of P1 to P4, P7 and P8 oligonucleotides; an application thereof; and an oligonucleotide for the application.

Abstract: The present invention provides a method for detecting mutations in the PALB2 gene in pancreatic cancer patients and in individuals having a family history of pancreatic cancer. Methods are also provided for diagnosing a predisposition to pancreatic cancer, for predicting a patient's response to pancreatic cancer therapies, and for treating pancreatic cancer, based on presence of a PALB2 mutation or abberant PALB2 gene expression in a patient.

Abstract: The present invention relates to a method of identifying a predisposition for developing posttraumatic stress disorder (PTSD) in a subject comprising assessing in a sample obtained from said subject the expression level of one or more genes selected from the FK506 binding protein 5 (FKBP5) gene, the signal transducer and activator of transcription (STAT5B) gene and the nuclear factor I/A (NFIA) gene, wherein a decrease in the expression level of said one or more genes as compared to the expression level of the corresponding gene(s) of a control is indicative of a predisposition for developing PTSD. Further, the invention relates to a method of identifying a compound capable of preventing or treating PTSD or capable of serving as a lead compound for developing a compound capable of preventing or treating PTSD and also to a method of selecting a therapy to prevent or treat PTSD.

Abstract: The invention provides novel FUS/TLS nucleic acids and proteins that comprise one or more genetic markers (for example, single nucleotide polymorphisms) and methods of use thereof including methods relating to the diagnosis of ALS or other related motor neuron disease by virtue of the presence of the mutant FUS/TLS sequence(s).

Abstract: The invention relates to the typing of MHC-DRB loci in mammals. In particular, the invention provides a typing procedure for the mammalian DRB region that allows an easy, economical, high resolution, fast and accurate haplotyping protocol. The invention further provides the use of said typing procedure in genetic applications, and provides a kit for typing of MHC-DRB loci.

Abstract: The present invention provides a method for detecting mutations in the PALB2 gene in pancreatic cancer patients and in individuals having a family history of pancreatic cancer. Methods are also provided for diagnosing a predisposition to pancreatic cancer, for predicting a patient's response to pancreatic cancer therapies, and for treating pancreatic cancer, based on presence of a PALB2 mutation or abberant PALB2 gene expression in a patient.

Abstract: A method for prognosing recurrence of prostate cancer (PCa) in a subject following prostatectomy using the outcomes of selected single nucleotide polymorphisms (SNPs) and clinical variables. A method for genotyping PCa associated genetic variations comprising use of a DNA microarray. A microarray for use in the described methods.

Abstract: Compositions and methods useful for the diagnosis and treatment of common variable immunodeficiency are disclosed.

Abstract: To provide a method for determining the sensitivity of a patient to irinotecan, SN-38, and/or a salt thereof, which method can determine the therapeutic response of the patient and to provide a novel cancer therapeutic means employing the method. The method for determining the sensitivity of a subject to irinotecan, SN-38, and/or a salt thereof includes measuring the expression levels of AMD1 gene, CTSC gene, EIF1AX gene, C12orf30 gene, DDX54 gene, PTPN2 gene, and TBX3 gene in a specimen, and calculating the best tumor response rate (%), overall survival (days), or progression-free survival (days) from formulas (1) to (3).

Abstract: Methods and compositions are provided for determining whether a subject suffering from a neoplastic condition is responsive to an antineoplastic therapy, such as antibody therapy, e.g., Rituximab. In practicing the subject methods, the subject is genotyped to determine whether the subject has a least one favorable Fc?R polymorphism, e.g., the 131 H/H genotype or the 158 V/V genotype. In addition, reagents, devices and kits thereof, that find use in practicing the subject methods are provided.

Abstract: The objective of the present invention is to provide a method and a means of rapidly and reliably detecting lymph node metastasis in cancer or the risk of lymph node metastasis. Specifically, the present invention provides a method and a rapid determination kit for detecting lymph node metastasis in cancer or its risk by identifying a certain genetic polymorphism of the human CRP gene, and it is clinically significant in determining the treatment strategy, because effective prediction/determination can be made regarding lymph node metastasis, which is an important phenomenon in cancer progression.

Abstract: The present invention relates to a method of evaluating the cancer state of a subject using lecithin:retinol acyl transferase (LRAT) gene promoter methylation status. Methods of analyzing and quantifying LRAT gene promoter methylation level are also disclosed. The present invention also relates to methods of determining the prognosis for s subject having cancer by assessing LRAT mRNA expression and LRAT protein expression. Methods of cancer detection, diagnosis, prognosis, and treatment are also disclosed.

Abstract: Provided in the present disclosure is a probe for detecting polymorphism that enables a simple detection of polymorphism in the CYP3A gene with high sensitivity.

Abstract: The present invention relates to a method, in particular an in vitro method for identifying FoxP3-positive CD25+CD4+ regulatory T cells of a mammal, comprising analyzing the methylation status of at least one CpG position in the FOXP3 gene, in particular its “upstream” regulatory regions, and in particular the promoter and the TSDR region of the gene foxp3, wherein a demethylation to at least 90% of at least one CpG in the sample as analyzed is indicative for a FoxP3-positive CD25+CD4+ regulatory T cell, and the use of said DNA-methylation analysis of the gene of the transcription factor FoxP3 for a detection and quality assurance and control of regulatory T cells. Furthermore, the present invention relates to a kit for performing the above methods as well as respective uses.

Abstract: The present invention identifies genotypes associated with resistance to extrapyramidal symptoms induced by antipsychotic drugs. The present invention further identifies genotypes associated with predisposition to the onset or aggravation of extrapyramidal symptoms induced by antipsychotic drugs and use thereof for assessment of patient populations. Specifically, the present invention relates to particular polymorphisms in the RGS2 gene that are associated with resistance or susceptibility to drug-induced extrapyramidal symptoms.