60 results about "Human genetics" patented technology

The present invention relates generally to the field of human genetics, and more specifically to the detection of a specific type of germline mutations in the BRCA1 gene, which will predispose to breast and ovarian cancer. In addition, the invention relates to the molecular genetic mechanism that may have mediated the genesis of these mutations, in particular the role of Alu repetitive DNA elements present in the intronic regions of BRCA1. The invention further relates to somatic mutations of this type in the BRCA1 gene in human breast and ovarian cancer, and their use in the diagnosis and prognosis of human breast and ovarian cancer. The invention more particularly relates to the screening of this type of BRCA1 mutations in human genomic DNA, which are useful for the diagnosis of inherited predisposition to breast and ovarian cancer.

Provided is a genuine model animal of epilepsy, since most of the existing model animals are so-called seizure model animals showing forcibly-induced seizure. Also provided is a method whereby a recombinant can be easily distinguished. A non-human mammal model of epilepsy which is an epilepsy model of a non-human animal such as rat having the same genetic defect as human genetic defect causing epilepsy, which carries a genetic mutation that is the genetic defect having been transferred into the non-human mammal DNA of neuron nicotinic acetylcholine receptor a4 subunit (CHRNA4) gene or ss2 subunit (CHRNB2) gene relating to human autosomal dominant nocturnal frontal lobe epilepsy and which also carries a mutated gene obtained by transferring a specific probe thereinto. A recombinant of this non-human mammal model of epilepsy can be easily distinguished.

The invention provides a genetic reference standard with at least one human genetic reference sequence (having a human DNA sequence containing at least one genetic variant whose presence in the DNA of a human subject is indicative of a pathological condition, a predisposition to a pathological condition, or a predisposition to an adverse reaction to external stimuli, or is indicative of a patient's likely response to a therapeutic intervention, i.e. a variant used in pharmacogenomic analysis) cloned into a non-mammalian animal cell line. There are also provided such reference standards where the human DNA is targeted to specific location in the host genome, using homologous recombination. The invention further provides a method of detecting a genetic variant using such reference standards.

Disclosed are methods and software for biological data analysis. Specifically, provided are methods, computer programs and systems for analyzing data in the form of various intensity measurements obtained from an oligonucleotides microarray experiment. Such data may be microarray data obtained from an experiment conducted to determine copy number of a human genetic sample. The data are corrected by application of one or more covariate adjusters which may be applied simultaneously and which may be selected by a user. Further, the present application provides methods of filtering image data and signal restoration of image data using log2 ratio data.

The present invention relates to a method for detecting c.-124 C>T and c.-146 C>T mutations in the Htert gene promoter. The method uses reaction compositions that comprise amplification primers and genotyping probes. Another aspect of this invention relates to the primers and probes used to implement the aforementioned method, with sequences, identified as SEQ ID no.1 to SEQ ID no.6, that displayhigh specificity for these mutations, and to the compositions containing these primers and probes. The present invention further relates to a kit comprising the above-mentioned compositions for detecting c.-124 C>T and c.-146 C>T mutations in the Htert gene promoter by carrying out the method according to the present invention. The method, gene sequences, compositions and kit of the present invention can be advantageously used for detecting trace amounts of c.-124 C>T and c.-146 C>T mutations in biological samples, due to their high sensitivity and specificity for such mutations. The present invention can thus be applied in early detection, identification, detection of recurrence or prediction and monitoring of diseases associated with this type of mutations, such as bladder carcinomas, thyroid carcinomas, squamous cell carcinomas, basal cell carcinomas, melanomas, gliomas and hepatocellular carcinomas, inter alia, and ultimately provide the basis for defining a suitable treatment. Thus, the present invention pertains to the technical fields of medicine, pharmaceutics, molecular biology, biochemistry, human genetics and the like.

The present invention relates generally to the field of human genetics. Specifically, the present invention relates to methods and materials used to isolate and detect a human depression predisposing gene, specifically the apoptotic protease activating factor 1 (APAF1) gene, some mutant alleles of which cause susceptibility to depression. More specifically, the invention relates to germline mutations in the APAF1 gene and their use in the diagnosis of predisposition to depression. The invention also relates to the prophylaxis and / or therapy of depression associated with a mutation in the APAF1 gene. The invention further relates to the screening of drugs for depression therapy. Finally, the invention relates to the screening of the APAF1 gene for mutations / alterations, which are useful for diagnosing the predisposition to depression.