Abstract: Isolated HSD3B1 nucleic acid molecules that include a nucleotide sequence variant and nucleotides flanking the sequence variant are described, as are HSD3B1 allozymes. Methods for determining whether a subject contains an HSD3B1 sequence variant also are provided.

Abstract: This invention provides methods, apparatus and kits for the quantitative and qualitative characterization of the nucleic acid molecule's behavior by modify the nucleic acid molecules to incorporate selected fluorescent base analogues (FBAs). The methods generally place one or more fluorescent base analogue into a nucleic acid molecule (e.g., an oligonucleotide) to replace the corresponding normal base(s), arrange fluorescent base analogues as intrinsic fluorescent probes by using direct excitation, indirect excitation, and excimer emission labeling schemes, introducing so modified nucleic acid molecules into the matrix with interested condition and measuring the fluorescent properties of the modified nucleic acid molecules at the specific emission wavelength of FBA(s). The apparatus is designed to irradiate the FBA(s) incorporated nucleic acid molecule at a wavelength in the range of 240 nm-280 nm and detect the fluorescent activities at the specific emission wavelength of the respective FBA(s).

Abstract: The present invention relates to the enrichment of specific target sequences. Enrichment can be achieved through the formation of a heteroduplex that includes the specific target sequence and then the specific cleavage of the heteroduplex. A binding moiety is then added to the cleaved heteroduplex, allowing for the subsequent manipulation of the specific target sequence in the heteroduplex.

Abstract: A method and kit for electrochemically simply determining with excellent precision the amount of double-stranded DNA does not require an expensive measurement electrode, such as an immobilized enzyme electrode or any high level electrode production technique which can retain uniform surface area accuracy. A method and kit are provided for electrochemically determining the amount of double-stranded DNA in a sample solution based on a residual amount of a substance capable of binding to the double-stranded DNA which is added to the solution in excess amount, in which a buffering substance is added to a sample solution, the buffering substance being capable of allowing an oxidation wave potential of the potential-current curve for the substance capable of binding to the double-stranded-DNA determined in a solution containing the buffering substance to change depending on the concentration of the free substance capable of binding to the double-stranded DNA in the solution.

Abstract: The present invention is directed to methods of generating a signal indicative of the presence of said target nucleic acid sequence in a sample, comprising, incubating a sample comprising a an amplified target nucleic acid and a nucleic acid polymerase which substantially lacks 5? to 3? exonuclease activity, adding a thermostable fen nuclease consisting of 5? to 3? exonuclease and/or endonuclease activity so as to cleave a cleavage structure and generate a signal.

Abstract: The invention relates to a nucleic acid marker ladder which is a restriction endonuclease digest, wherein a nucleic acid restriction endonuclease digest is a collection of nucleic acid fragments resulting from complete digestion of one or more nucleic acids by one or more restriction endonucleases; the restriction endonuclease digest contains at least 3 fragments; and the size of the fragments in base pairs is a multiple of an integer, wherein the integer is 10 or more.

Abstract: The invention generally provides a method for the sample preparation for a subsequent preparation, processing or analysis method of a sample containing an at least one species of nucleic acid and/or one species of protein, whereby the method comprises the following steps: A) providing a sample which contains at least one species of a nucleic acid and/or of a protein, B) contacting the sample with a fluid or solid composition to produce a fluid sample preparation, whereby the composition contains at least a nitrogenous compound, which is selected from the group consisting of a) polyamines, b) amino acids, and oligo- and polypeptides, c) nitrogenous heterocyclic compounds, including homo-older heteropolymeres, which comprise these nitrogenous compounds, d) amines of the type R1R2NR3, whereby R1, R2 and R3 are chosen independently from one another from the group consisting of H, C1-C5-alkyl groups and aryl groups, whereby R1, R2 and R3 are not H simultaneously, e) carboxylic acid amides, f) inorganic ammonium sa

Abstract: The invention relates to and methods for generating a signal indicative of the presence of a target nucleic acid in a sample. The compositions and methods include a reverse transcriptase, a nuclease, an upstream primer and downstream probe.

Abstract: This invention relates to a composition comprising at least two chemically different fluorophores, providing a donor and an acceptor respectively, connected together by at least one linker moiety and bonded to a binder moiety.

Abstract: Methods are provided for accurately predicting efficacy of chemotherapeutic agents. Methods of the invention increase the positive predictive value of chemosensitivity assays by assessing both the ability of a chemotherapeutic to destroy cells and the genetic propensity of those cells for resistance. Results obtained using methods of the invention provide insight into the in vivo effectiveness of a therapeutic, and lead to more effective chemotherapeutic treatment.

Abstract: The invention relates to compositions and methods for generating a signal indicative of the presence of a target nucleic acid in a sample, where the compositions and methods include an RNA polymerase, a FEN nuclease, and a probe.

Abstract: A method for selectively separating and purifying RNA from a mixture solution of nucleic acid containing DNA and RNA, wherein the method comprising the steps of: (1-a) adsorbing nucleic acid; (1-b) washing; (1-c) subjecting to a DNase treatment; (1-d) washing; and (1-e) desorbing the RNA from a nucleic acid-adsorbing porous membrane by a recovering solution, wherein in the step (1-c), a total amount of a DNase solution is 130 ?l or less per 1 cm2 of the membrane. And a method for selectively separating and purifying RNA or DNA, which comprises the steps of: (2-a) adsorbing nucleic acid; (2-b) washing by a washing solution; and (2-c) desorbing the nucleic acid from a nucleic acid-adsorbing porous membrane, wherein the washing solution contains a water-soluble organic solvent having a concentration of 50% by weight or less, and does not contain a chaotropic salt.

Abstract: The present invention provides a quantitative method for assaying the expression ratio between alleles differed by a single nucleotide polymorphism.

Abstract: The present invention relates to methods and compositions for analyzing nucleic acids. In particular, the present invention provides methods and compositions for the detection and characterization of nucleic acid sequences and sequence changes. The methods of the present invention permit the detection and/or identification of genetic polymorphism such as those associated with human disease and permit the identification of pathogens (e.g., viral and bacterial strain identification).

Abstract: Provided herein are compositions and methods for enhancing the relative efficiency of hybridization between target nucleic acids and capture probes compared to target variants and capture probes.

Abstract: Described is a novel method for the detection of ncRNA molecules. The disclosed method is especially useful for the detection miRNA and siRNA. The method can be used to generate a profile of the ncRNA molecules present in a sample. In addition, using the methods of the present disclosure a ncRNA signature for a given disease or condition can be created. The ncRNA signature can be used for diagnostic purposes, therapeutic purposes and drug discovery purposes, as well as other uses.

Abstract: A sensor chip that includes: a fluorescence quenching surface; a nucleic acid probe that contains first and second ends with the first end bound to the fluorescence quenching surface, and is characterized by being able to self-anneal into a hairpin conformation; and a first fluorophore bound to the second end of the first nucleic acid molecule. When the first nucleic acid molecule is in the hairpin conformation, the fluorescence quenching surface substantially quenches fluorescent emissions by the first fluorophore; and when the first nucleic acid molecule is in a non-hairpin conformation, fluorescent emissions by the fluorophore are substantially free of quenching by the fluorescence quenching surface. Various nucleic acid probes, methods of making the sensor chip, biological sensor devices that contain the sensor chip, and their methods of use are also disclosed.

Abstract: The invention relates to compositions and methods of generating a signal indicative of the presence of a target nucleic acid in a sample, where the method includes forming a cleavage structure by incubating a sample comprising a target nucleic acid with a probe. The invention also includes the steps of cleaving the cleavage structure with a nuclease to release a nucleic acid fragment to generate a signal, wherein generation of the signal is indicative of the presence of a target nucleic acid in a sample.

Abstract: Heteroduplex band resolution is found to be improved by modifying the induced heteroduplex generator (IHG) molecule such that the identifier is spaced apart from the nucleotide position immediately adjacent to the site of the polymorphism which is to be genotyped. Unexpectedly, it is found that, when such modified IHG molecules are used, the resolution of the induced heteroduplexes is significantly improved.

Abstract: The present invention provides for methods of DNA methylation detection. The present invention provides for methods of generating and detecting specific electronic signals that report the methylation status of targeted DNA molecules in biological samples. Two methods are described, direct and indirect detection of methylated DNA molecules in a nano transistor based device. In the direct detection, methylated target DNA molecules are captured on the sensing surface resulting in changes in the electrical properties of a nano transistor. These changes generate detectable electronic signals. In the indirect detection, antibody-DNA conjugates are used to identify methylated DNA molecules. RNA signal molecules are generated through an in vitro transcription process. These RNA molecules are captured on the sensing surface change the electrical properties of nano transistor thereby generating detectable electronic signals.