Abstract: Methods are disclosed for rapid, reliable and simple isolation of RNA from formalin-fixed paraffin-embedded tissue samples. RNA purified in this manner can be used to monitor gene expression levels. The tissue sample can be a tumor or other pathological tissue.

Abstract: The invention provides methods, compositions and systems for detecting multiple single nucleotide polymorphisms (SNPs) in a population of target polynucleotides in parallel in a sandwich assay employing SNP probes, capture polynucleotides and, optionally, auxiliary polynucleotides. The relative affinities of the SNP probes for the corresponding SNP regions can be increased with reagents which normalize the melting temperatures of the probes and/or by positionally facilitating interactions between the SNP probe, the SNP region, the capture polynucleotide and/or the auxiliary polynucleotides, such as through a minor groove binder. The probes may comprise a degenerate set of all possible same-sized polynucleotides and the capture polynucleotides are generally immobilized and arrayed at corresponding discrete elements in high density.

Abstract: The invention concerns mammalian recombinase genes (REC2) and their promoters. Over expression of REC2 in a cell is found to facilitate homologous recombination, particularly homologous recombination using a DNA/RNA chimeric oligonucleotide and to sensitize a cell to the apoptotic effects of irradiation. The REC2 promoter, in combination with a strong enhancer, e.g., a SV40 enhancer, was found to be a strong promoter following irradiation of the cells. A radiation induceable promoter can be used to sensitize a cell to radiation treatment by operably linking the radiation induceable promoter to a gene whose expression converts a prodrug to a drug such as a herpes thymidien kinase gene.

Abstract: This invention is directed to cytochrome c551 polypeptides and polynucleotides encoding the polypeptides.

Abstract: Tools are provided which allow rapid and unequivocal identification elite event GAT-ZM1 in biological samples.

Abstract: This present invention identifies mutations in several androgen-metabolic genes (SRD5A2, CYP17, HSD3B2, and HSD17B3) and methods of using such mutations in the diagnosis and treatment of inheritable prostate cancer susceptibility. Isolation of genomic DNA of various racial/ethnic populations followed by SSCP scanning and direct PCR sequencing of the aberrant SSCP (single-strand conformation dependent DNA polymorphism) patterns allows for identification of the disclosed polymorphisms. Screening for the disclosed mutations establishes a differential distribution among various racial/ethnic groups as well as altered in vivo enzyme activity that parallels prostate cancer risk.

Abstract: A method of testing a subject for a propensity to develop, diagnose, or treat ALSV-induced cancer, comprising the steps of obtaining a cell or tissue sample from the subject, processing the sample to isolate DNA from the sample, and examining the DNA isolated from the sample to detect the presence of the ALSV LTR. The sample can be from a cell, a tissue or a tumor. Preferably, the DNA is examined using a PCR-based assay with at least one primer set from the group consisting of: AL1D (SEQ ID NO:1)/AL2B (SEQ ID NO:2), nprA181 (SEQ ID NO:3)/nprA308 (SEQ ID NO:4), nprA271(SEQ ID NO:5)/AL2B (SEQ ID NO:2), RAVO-1(SEQ ID NO:6)/RAVO-2(SEQ ID NO:7), AL1D(SEQ ID NO:1)/A-Au(SEQ ID NO: 13), S-Au(SEQ ID NO:12)/A-Au(SEQ ID NO:13), and nprA271(SEQ ID NO:5)/A-Au(SEQ ID NO:13), Sn271J(SEQ ID NO:14)/A-AuJ (SEQ ID NO:15).

Abstract: The specification relates to a gene which is involved in the control of melanin production in human melanocytes. Human homologs of rat rKr2 gene and their fragments, and a method for evaluating melanin production ability in human melanocytes using such fragments are also disclosed. These subject matters are useful mainly in the cosmetic and dermatological fields.

Abstract: The present invention provides a method of diagnosing or predicting susceptibility to an autoimmune disease in an individual by determining the presence or absence in the individual of a 2-2-4 haplotype at the Notch4, HSP70-HOM and D6S273 loci, where the presence of the haplotype diagnoses or predicts susceptibility to the autoimmune disease. The methods of the invention can be particularly useful for diagnosing or predicting susceptibility to Crohn's disease, rheumatoid arthritis or type I diabetes mellitus. In a preferred embodiment, a method of the invention is used to diagnose or predict susceptibility to Crohn's disease in an individual of Ashkenazi Jewish ethnicity.

Abstract: The invention relates to kits and methods for panhandle PCR amplification of a region of DNA having an unknown nucleotide sequence, wherein the region flanks a region of a leukemia-associated gene having a known nucleotide sequence in a human patient. Amplification of an unknown region flanking a known region of a leukemia-associated gene permits identification of a translocation partner of the gene or identification of a duplicated sequence within the gene. The invention further relates to kits useful for performing the methods of the invention, to an isolated polynucleotide, and to primers derived from such an isolated polynucleotide.

Abstract: Methods of detecting RNA in brain tissue of patients with Alzheimer's disease are provided. Methods of diagnosing Alzheimer's disease by detection of these RNAs are also provided.

Abstract: Modified thermostable DNA polymerases having enhanced efficiency for incorporating unconventional nucleotides such as those labeled with fluorescein family dyes are advantageous in many in vitro DNA synthesis applications. Such enzymes are particularly useful for use in chain termination nucleic acid sequencing protocols, as are native forms of such enzymes. Genes encoding the modified enzymes and methods for their production and use offer cost and efficiency advantages for DNA sequencing.

Abstract: Long QT Syndrome (LQTS) is a cardiovascular disorder characterized by prolongation of the QT interval on electrocardiogram and presence of syncope, seizures and sudden death. Five genes have been implicated in Romano-Ward syndrome, the autosomal dominant form of LQTS. These genes are KVLQT1, HERG, SCN5A, KCNE1 and KCNE2. Mutations in KVLQT1 and KCNE1 also cause the Jervell and Lange-Nielsen syndrome, a form of LQTS associated with deafness, a phenotypic abnormality inherited in an autosomal recessive fashion. Mutational analyses were used to screen 262 unrelated individuals with LQTS for mutations in the five defined genes. A total of 134 mutations were observed of which eighty were novel.

Abstract: The invention provides nucleic acids encoding Pitx3 polypeptides, fragments thereof and homologs thereof and Pitx3 polypeptides encoded thereby. Pitx3 polypeptides play an important role in development of eye structures, e.g., the lens, and was shown herein to be associated with the formation of cataracts and Anterior Segment Mesenchymal Dysgenesis (ASMD). Thus, the invention provides methods for predicting whether a subject has or is at risk of developing cataracts or other disease associated with an aberrant Pitx3, by determining, e.g., whether the subject has a genetic lesion in a Pitx3 gene, such as a 17 bp insertion, characteristic of cataract development and ASMD or a base pair substitution at codon 13. Methods for treating cataracts or diseases or conditions associated with an aberrant Pitx3, e.g., by administering to the subject a Pitx3 therapeutic, are also disclosed, as well as assays for identifying Pitx3 therapeutics.

Abstract: This invention provides various methods for identifying one or more genetic alterations in a sample polynucleotide strand.

Abstract: This invention relates to isolated proteins and to peptides which are found on the surface of colon cells and colon cancer cells, as well as to nucleic acid molecules encoding said protein and peptides. The protein and peptides bind to tumor associated antibodies, such as mAb 33. The monomeric protein has a molecular weight of about 43 kD as determined by SDS gel electrophoresis under non-reducing conditions. In addition, this invention relates to the use of said nucleic acid molecules, protein, in monomeric or multimeric form, and to antibodies to said peptides in diagnostic, screening and therapeutic methods. This invention further relates to antibodies specific for said protein, in monomeric or multimeric form, and to antibodies to said peptides.

Abstract: Methods are disclosed for the determination of degree of relatedness between individuals having the same or different surnames, based on comparisons of specific Y chromosome polymorphisms.

Abstract: A method for determining the presence of vancomycin antibiotic resistant gene of enterococci in a biological sample, comprising the steps of (a) treating cells contained within the biological sample to expose single stranded-target nucleic acid molecules; (b) reacting the target single-stranded cellular nucleic acids with probe(s) nucleic acid sequence complementary to a portion of the antibiotic vancomycin resistant gene and the probe having a scissile linkage, and with an enzyme molecule, under conditions, which allow the target and probe to hybridize to each other and form a double-stranded, target-probe complex, the enzyme molecule being capable of cleaving the scissile link of the target-probe complex such that one or more fragments of the nucleic acid probe is released from said complex; and (c) determining whether cleaved portions of the nucleic acid probe are produced, and thereby detecting the presence of a vancomycin antibiotic resistant gene.

Abstract: A noninvasive method utilizing feces, containing sloughed colonocytes, as a sensitive technique for detecting diagnostic colonic biomarkers as well as a method for isolating poly A +RNA from feces. The method allows the isolation and quantitation of specific eukarotic mRNAs as candidate biomarkers for colon cancer isolated from feces.

Abstract: The invention provides a method for rapidly, economically and efficiently determining the concentration of a target nucleobase-containing sequence in a fluid medium using laser induced fluorescence of antisense probes. When hybridization complexes and unhybridized probes are separated prior to detection, the fluorescent intensity of the test medium is proportional to the concentration of the target sequence. When hybridization complexes and unhybridized probes are not separated prior to detection, the fluorescent intensity of the test medium is inversely proportional to the concentration of the target sequence. The method can be used to determine the concentration of a contaminant in a sample as a part of a system of quality control.