43 results about "Dna polymorphism" patented technology

The present invention provides systems, apparatuses, and methods to detect the presence of fetal cells when mixed with a population of maternal cells in a sample and to test fetal abnormalities, i.e. aneuploidy. In addition, the present invention provides methods to determine when there are insufficient fetal cells for a determination and report a non-informative case. The present invention involves quantifying regions of genomic DNA from a mixed sample. More particularly the invention involves quantifying DNA polymorphisms from the mixed sample.

The present invention relates to compositions, kits, and methods for molecular profiling and cancer diagnostics, including but not limited to gene expression product markers, alternative exon usage markers, and DNA polymorphisms associated with cancer. In particular, the present invention provides molecular profiles associated with thyroid cancer, methods of determining molecular profiles, and methods of analyzing results to provide a diagnosis.

The present invention relates to methods and compositions for predicting drug responses. In particular, the present invention provides methods and compositions for determining individualized Warfarin dosages based on genotype of DNA polymorphisms and haplotypes derived from them in the VKORC1 gene.

The present invention provides methods to produce a reduced representation of a genome for sequencing and DNA polymorphism detection. In particular, the invention provides PCR-based methods, with normalization of the amplified products using a duplex-specific nuclease, in order to reduce over-representation of PCR products. Oligonucleotides for use in the disclosed method are also provided.

Disclosed are methods of identifying and diagnosing certain types of cancers and pre-stages thereof in a patient by identifying alternatively spliced isoforms of wild type KLF6 (KLF6wt), in particular any one of the isoforms selected from the group consisting of: KLF6 splice variant-1 (KLF6SV1), KLF6 splice variant-2 (KLF6SV2), and KLF6 splice variant-3 (KLF6SV3). Also disclosed are methods for diagnosing cancer using the polypeptides and polynucleotides identified herein, as well as methods of treating certain types of cancers by inhibiting polynucleotides and polypeptides identified herein.

The present invention provides systems, apparatuses, and methods to detect the presence of fetal cells when mixed with a population of maternal cells in a sample and to test fetal abnormalities, e.g.aneuploidy. The present invention involves labeling regions of genomic DNA in each cell in said mixed sample with different labels wherein each label is specific to each cell and quantifying the labeled regions of genomic DNA from each cell in the mixed sample. More particularly the invention involves quantifying labeled DNA polymorphisms from each cell in the mixed sample.

The invention discloses a molecular label linked with a major gene of a high-strength cotton fiber, which is obtained by the following method: taking the Xinluzao No.24 as a male parent, taking Lunianyan No.28 and Ji cotton 516 as female parents; respectively constructing two segregation populations of F2 and F2:3; carrying out polymorphism screening between parents (Lunianyan 28 and Xinluzao 24)by utilizing an SSR (simple sequence repeat) primer; constructing a genetic linkage map by utilizing F2; carrying out two generation quantitative trait locus (QTL); selecting an SSR label linked withthe high-strength cotton fiber to analyze the DNA polymorphism of the parent Xinluzao 24 and the Ji cotton 516; and constructing the genetic linkage map and positioning QTL; the fiber strength major QTL (qFS-62) can be stably detected in two populations and generations, and is positioned between the label interval of DPL0757-DPL0920 of chromosome c7; a synergtic gene is from the parent Xinluzao No.24; and the linking label of qFS-6-2 is DPL0757130, DPL0852170 and DPL0920130. By utilizing the label provided by the invention, molecule label assisted selection is carried out, thus improving the selection efficiency of the high-strength cotton fibre.

Provided are a method for multiplex detection of genomic DNA polymorphism and probes dedicated thereto. Also disclosed is a single-stranded DNA molecule comprising successively, from the 5' end to the 3' end, a left-side oligonucleotide fragment complementary to the 5' end of the DNA to be detected, a main fragment and a right-side oligonucleotide fragment complementary to the 3' end of the DNA to be detected. Through ligase reaction, different labels and different allelic sites are distinguished by the single-stranged DNA molecule. Hand-clasping probes of different lengths are successfully ligated by PCR amplification. Through gel or capillary electrophoresis separation and detection systems, simultaneous detection of the polymorphism of a multiple of deoxyribonucleic acids is achieved. High sensitivity and accuracy are attained, and the requirements for high-throughput and low cost are satisfied at the same time.