Abstract: This invention discloses methods, compositions and kits for the detection of extremely low levels of nucleic acid, cells and cellular material in biological samples. The nucleic acid detection systems utilize either the pyrophosphorolysis reaction catalyzed by various polymerases or nuclease digestion coupled with pyrophosphorylation catalyzed by phosphoribosylpyrophosphate synthetase to produce either deoxyribonucleoside triphosphates or ribonucleoside triphosphates. dNTPs are transformed to ATP by the action of nucleoside diphosphate kinase. The ATP produced by these reactions may be detected by luciferase or NADH based detection systems. If more sensitive detection is required, schemes for the amplification of NTPs and dNTPS are provided. A detection system for cells or cellular material in a sample is provided wherein AMP and a high energy phosphate donor added to a sample are converted to ATP by the action of endogenous enzymes, followed by detection of the ATP.

Abstract: The present invention provides methods for screening for bioactive compounds, in particular those that bind to RNA sequences involved in the pathogenesis of disease or in regulation of a physiological function. The methods involve assessing the stability and/or the conformation of an RNA target in the presence and absence of test ligands, and identifying as a ligand any test ligand that causes a measurable change in target RNA stability and/or conformation. In a preferred embodiment, the effect of a ligand on target RNA stability and/or conformation is assessed by measuring the fluorescence polarization of a fluorescently labeled probe.

Abstract: Human nm23 DNA and protein is disclosed as well as antibodies which recognize human nm23 protein. The DNA and antibodies may be used to detect nm23 in human tumors to predict the malignancy potential of such tumors.

Abstract: The present invention provides a process for detecting the presence of a target mRNA in an intact cell. The process includes the steps of (a) fixing and permeabilizing with a non- or weakly-crosslinking reagent the cell in the presence of a plurality of oligonucleotide probes, wherein each probe (i) contains about 15 to about 30 nucleotides, (ii) is labeled with a detectable marker, (iii) has a matched Tm of greater than about 60° C., and (iv) specifically hybridizes to a different contiguous region of an open reading frame in the target mRNA with the provisos that each probe does not hybridize to itself, does not hybridize to any other probe and does not hybridize to a contiguous sequence of (A)n9 (C)n9 (G)n or (U)n in the target mRNA where n is an integer greater than 5; (b) removing unhybridized probes from the cell; and (c) measuring the detectable label in the cell.

Abstract: The invention provides an array of surface-bound, bimolecular, double-stranded, nucleic acid molecules, the array comprising a solid support, and a plurality of different double-stranded nucleic acid molecule members, a member comprising a first nucleic acid strand linked to the solid support and a second nucleic acid strand which is substantially complementary to the first strand and complexed to the first strand by Watson-Crick base pairing, wherein at least a portion of the members have a second nucleic acid strand is substantially complementary to and base paired with the first strand along the entire length of the first strand.

Abstract: A method of determining the presence and identity of a variation in a nucleotide sequence between a first polynucleotide and a second polynucleotide comprising, first, providing a sample of the first polynucleotide and selecting a region of the first polynucleotide potentially containing the variation. Then, the selected region is subjected to a template producing amplification reaction to produce a plurality of double stranded polynucleotide templates which include the selected region. Next, a family of labeled, linear polynucleotide fragments is produced from both strands of the template simultaneously by a fragment producing reaction using a set of primers. Then, the location and identity of at least some of the bases in the selected region of the first polynucleotide is determined using the labels present in the fragments.

Abstract: A process for determining the identity of a target polypeptide using mass spectroscopy is provided. Depending on the target polypeptide to be identified, a process as disclosed can be used, for example, to diagnose a genetic disease or chromosomal abnormality, a predisposition to a disease or condition, or infection by a pathogenic organism; or for determining identity or heredity. Kits for performing the disclosed processes also are provided.

Abstract: Methods for detecting in a human biological sample the presence of HLA DQB1 alleles 0201/0202, 0302/0303, and/or 0602 which are associated with increased or decreased susceptibility to insulin dependent diabetes mellitus.

Abstract: Method for double-stranded DNA purification, by which a solution containing said DNA in a mixture with other components is passed over a support on which is covalently coupled in oligonucleotide capable of hybridizing with a specific sequence present on said DNA to form a triple helix.

Abstract: The present invention provides methods for determining nucleic acid sequences based on known sequences adjacent to the unknown sequences, and reagents for using such methods.

Abstract: The present invention provides nucleotide and amino acid sequences for a novel PAC10 human homolog. The present invention also provides for antisense molecules, diagnostic molecules, genetically engineered expression vectors and host cells for the production of purified PAC10 homologs; antibodies, agonists, antagonists and inhibitors of the PAC10 human homolog; and pharmaceutical compositions and methods of treatment based on the polypeptide, its antibodies, ntagonists and inhibitors. The invention further provides diagnostic and theapeutic compositions for the detection and treatment of X-linked congenital abnormalities, such as centronuclear myopathy.

Abstract: Disclosed is a method for determining the number of repeat units in a repeat region of a target nucleic acid. In a first aspect, the method of the invention includes the steps of annealing a primer to a target nucleic acid; performing a first primer extension reaction using a first primer extension reagent; separating the target-primer hybrid and unreacted first primer extension reagent; performing a second primer extension reaction using a second primer extension reagent, wherein at least one of the first or second primer extension reagents includes an extendible nucleotide having a label attached thereto; separating the target-primer hybrid from unreacted second primer extension reagent; measuring a signal produced by the label; treating the label so as to render the label undetectable; and repeating the above steps until the signal is substantially less than a signal detected in a previous cycle.

Abstract: A gene coding for Pin m III, which is associated with overwintering and frost hardiness in western white pine, has been cloned and characterized. The gene contains an open reading frame of 486 base pairs, encoding a protein of 161 amino acid residues, with a calculated molecular weight of 18002.30 daltons. The predicted isoelectricl point is 5.534. The gene is transcriptionally regulated with the highest expression in fall and winter months. The protein Pin m III is high in infected tissue such as canker. Accordingly, the gene can be used to determine frost hardiness and blister resist fungus susceptibility in conifers.

Abstract: The invention involves the recognition of a previously unidentified protein family which belongs to, the human SCP family. The members of the family, such as SCP-2 and rat SCP-3 homolog are markers for cell transformation. Diagnostic and therapeutic uses of these protein and related molecules are taught.

Abstract: A method of producing libraries of genes encoding antigen-combining molecules or antibodies; a method of producing antigen-combining molecules which does not require an in vivo procedure; a method of obtaining antigen-combining molecules of selected specificity which does not require an in vivo procedure; vectors useful in the present method; and antigen-combining molecules produced by the method. The antigen-combining molecules are useful for the detection, quantitation, purification and neutralization of antigens, as well as for diagnostic, therapeutic and prophylactic purposes.

Abstract: The present invention is a method for ranking the affinity of each of a multiplicity of different molecules for a target molecule which is capable of denaturing due to a thermal change.

Abstract: There is provided by this invention methods of detecting genetic deletions, translocations, and mutations associated with at least one condition selected from the group consisting of DiGeorge syndrome, Velocardiofacial syndrome, CHARGE association, conotruncal cardiac defect, and cleft palate in a human patient comprising the steps of providing a DNA containing test sample from said human patient; identifying whether there are less than two functional copies of the DiGeorge syndrome critical region loci, whereby said identification of less than two copies of the DiGeorge syndrome critical region loci is indicative of a likelihood that said person has at least one of DiGeorge syndrome, Velocardiofacial syndrome, CHARGE association, conotruncal cardiac defect, and cleft palate. Probes and primers useful in the invention are also provided as are diagnostic kits.

Abstract: The present invention relates to the detection of specific nucleic acid sequences after an amplification process, or directly without amplification. In particular, the invention provides for the automation of the amplification and detection process, the amplification and detection of one or more specific nucleic acid sequences, the use of internal controls, reduced potential for contamination caused by the manual manipulation of reagents, and improved reagent compositions to better control assay performance and provide for further protection against contamination.

Abstract: The present invention relates to a novel nucleotide sequence encoding a telomeric protein which binds a repeat region of telomeric sequences, and to the protein encoded thereby. Also included within the invention are expression vectors for the production of the telomeric protein and host cells transformed with the nucleotide sequence. In addition, antibodies, probes and antagonists specific for the telomeric protein are contemplated. Methods of identifying antagonists of the telomeric protein, diagnostic methods of identifying the telomeric protein in a sample, and therapeutic uses of the telomeric protein, particularly in the treatment of aging and cancer, are also contemplated.

Abstract: Provided herein is a method for detecting the presence of a target nucleic acid sequence in a sample. The present method uses a combination of dual labeled probes and heterogeneous detection methods.