105 results about "Genetic predisposition" patented technology

The present invention relates to an in vitro method for diagnosing a genetic predisposition or susceptibility for a cardiovascular disease, condition or disorder in a mammal which comprises detecting of at least three particular single nucleotide polymorphisms (SNP) in a sample obtained from said mammal in at least one of a genomic locus-derived nucleic acid or fragment thereof of the loci APOB, APOE, ABCA1, CETP, LCAT, LIPC, LPL, LDLR, APOC2, APOA5, APOA4, APOC3, and APOA1. Furthermore, the present invention relates to the improved diagnosis that is based on the analysis of several haplotypes for the above-mentioned loci (i.e. a combination of said haplotypes).

The invention discloses a primer, a method and a kit for detecting mutation sites of human BRCA1 and BRCA2 gene all-coding sequences. The primer comprises forward and reverse primers which can amplifyfor covering all the 24 coding zones of BRCA1 gene and of which base sequences are shown as SEQ ID NO:3-52. The primer further comprises forward and reverse primers which can amplify for covering allthe 27 exon coding zones of BRCA2 gene and of which base sequences are shown as SEQ ID NO: 53-134. A detection method based on NGS technique comprises the following steps: combining a specific primerwith a target template DNA sequence; adopting a universal primer for amplifying a to-be-detected sample target area; purifying a library by using a magnetic bead; performing high-throughput sequencing on the acquired library and analyzing mutation of BRCA1 and BRCA2 genes. The primer, method and kit disclosed by the invention can cover all the to-be-detected mutation sites; uniformity is high; experimental procedures can be simplified; detection sensitivity is promoted; a guidance is supplied for selective medication of patients suffering from familial breast cancer and ovarian cancer as wellas for genetic predisposition; morbidity risk is effectively reduced.

This application relates to methods and kits for detecting predisposition to increased risk for osteoarthritis associated conditions.

The invention relates to application of GJB2 gene p.V37I mutation to the preparation of products for diagnosing late-onset deafness. The GJB2 gene p.V37I mutation is p.V37I exclusive mutation. The invention also provides a GJB2 gene p.V37I mutation diagnostic kit for diagnosing the late-onset deafness and application of the kit. The GJB2 gene p.V37I mutation diagnostic kit has the advantages that: a common molecular identifier, namely the GJB2 gene p.V37I exclusive mutation related to the late-onset deafness highly is discovered at home and abroad for the first time; a molecular identifier-based gene screening method and the preferential application range of the molecular identifier in the screening of neonates are determined; and the alarm time of the late-onset deafness caused by the GJB2 gene p.V37I exclusive mutation is advanced to a neonate period, and the GJB2 gene p.V37I mutation diagnostic kit is widely applied to the early detection, intervention and rehabilitation of genetic susceptible late-onset deafness, the screening and diagnosis of deafness genes, late-onset deafness hearing-gene combined screening and other relevant study fields.

The present invention relates to methods of enriching fetal cells from a pregnant female. The present invention relates to removing, from a sample, cells that comprise at least one MHC molecule. The present invention also relates to methods that rely on using telomerase, mRNA encoding components thereof, as well as telomere length, as markers for fetal cells. Enriched fetal cells can be used in a variety of procedures including, detection of a trait of interest such as a disease trait, or a genetic predisposition thereto, gender typing and parentage testing.

Methods are disclosed herein for detecting a genetic predisposition to focal segmental glomerulosclerosis (FSGS) or hypertensive end-stage kidney disease (ESKD) or both in a human subject, e.g., by detecting the presence of at least one single nucleotide polymorphism (SNP) in an APOL1 gene, such as the C-terminal exon of an APOL1 gene. In a further embodiment, methods are disclosed for detecting resistance of a subject to a disease associated with Trypanosoma infection, e.g., by detecting at least one single nucleotide polymorphism (SNP) in an APOL1 gene, such as the C-terminal exon of an APOL1 gene. Also disclosed are methods for treating a subject infected with T. brucei. The methods include administering a therapeutically effective amount of an APOL1 protein including a S342G substitution, an I384M substitution, and / or a deletion of N388 and Y389 to the subject.

A method for determining cerebrovascular disease genetic infectivity, its substance, composition and reagent kit are disclosed. The method includes determining VEGFR-2 gene polymorphic site-604T / G and / or +1192C / T and / or +1719A / T genetic polymorphic style. It can be used for cerebral thrombosis, spatial cerebral infarction and cerebral hemorrhage.