7 results about "Susceptibility gene" patented technology

This invention discloses a method and system for selecting functional gene variant sites, relating to the field of gene site selection. The method includes: acquiring chromatin accessibility distribution information across the entire genome; performing convolutional block transformation based on the accessibility distribution information to obtain accessibility feature values; determining genomic information across the entire genome based on regulatory maps; determining an initial weight value set based on the accessibility feature values ​​and genomic information; the initial weight value set is a set of initial weight values ​​corresponding to each of the accessibility feature values ​​and genomic information; inputting the accessibility feature values, genomic information, and the initial weight value set into a site selection model, and outputting selected functional gene variant site information and regulated susceptibility gene information; the selected functional gene variant site information includes: site variant bases that meet set threshold conditions and their corresponding site coordinates; this invention can improve the selection efficiency of functional gene variant sites.

The invention relates to a capture probe group, a kit and a method for detecting hepatobiliary tumor genetic susceptibility gene polymorphism, and belongs to the technical field of biology. The nucleotide sequences of the capture probe group provided by the invention are as shown in SEQ ID NO. 1 to SEQ ID NO. 445; the hepatobiliary tumor genetic susceptibility gene comprises at least one of APC, ATM, ATR, BAP1, BRCA1, BRCA2, FANCA, MLH1, MSH2, MSH6, PALB2, PMS2 and RAD51D. The invention also provides a kit containing the capture probe group and a detection method. The method has the advantages that the coverage area is wide, the embryonic line variation of all exon areas can be detected, the designed capture probe covers the full coding area sequence of the related gene, the coverage degree of the target area reaches 100%, and the average sequencing depth reaches 100 *.

The invention relates to a primer group, a kit and a method for detecting a Fabry cardiomyopathy genetic susceptibility gene, and belongs to the technical field of gene detection. The genetic susceptibility gene of the Brie cardiomyopathy is a GLA gene, and the mutation site of the genetic susceptibility gene is c.640-801Ggt; a; the primer group comprises a PCR (Polymerase Chain Reaction) amplification primer group, and the amplification primer group comprises a forward PCR amplification primer and a reverse PCR amplification primer; the primer group further comprises a Sanger sequencing primer group, and the sequencing primer group comprises a forward sequencing primer and a reverse sequencing primer. The invention also provides a kit and a detection method based on the primer group. According to the primer group and the kit containing the primer group, the c.640-801Ggt of the Fabry cardiomyopathy GLA gene can be detected on the basis of a first-generation sequencing technology; a site mutation has important value for early screening detection and genetic risk assessment of the disease gene.

This invention provides a susceptibility gene for Th2-type asthma, a drug for it, and its application. The susceptibility gene is ALOX15, and the drug is an inhibitor of ALOX15 expression. This invention is the first to discover the relationship between ALOX15 and its main product, 15-HETE-PE, and Th2-type asthma. Inhibition of ALOX15 expression significantly reduces eosinophil expression and the number and percentage of eosinophils in blood and bronchoalveolar lavage fluid. Therefore, specific treatment targeting ALOX15 can serve as a novel treatment for asthma. The drug of this invention effectively reduces eosinophil count in animal and cell experiments, achieving a therapeutic effect for Th2-type asthma. This is a significant advantage compared to some refractory asthma patients whose eosinophil count cannot be reduced to normal levels with existing treatments.

The invention relates to the field of bioinformatics, in particular to a susceptibility gene visualization decision support system and a method thereof.According to the system, a multi-level heterogeneous network of family and gene variation is constructed, topological feature extraction and Laplacian spectrum analysis are combined, a high-risk variation transmission path is recognized, and a high-risk variable transmission path is obtained; multi-scale persistent homology analysis is utilized to reveal risk structure hierarchies, dynamic display of a family-gene association map is realized through interactive visualization, finally, a risk hierarchy tree and a clinical knowledge base are integrated, accurate clinical decision support is provided for users, a complete analysis process from data to decision is realized, and the risk analysis efficiency is improved. A multi-level heterogeneous network is constructed based on a topology invariant theory, and integration expression of family relationship and gene variation data in a unified topology space is realized for the first time, so that doctors can intuitively understand distribution and association modes of variation in families.

The invention provides an asthma susceptibility gene, a medicine thereof and application of the medicine. The susceptibility gene is SGLT2. The medicine is an inhibitor canagliflozin of SGLT2. The potential causal association between the hypoglycemic drug canagliflozin and the asthma risk is found for the first time, the canagliflozin can significantly improve Th2 type airway inflammation, goblet cell metaplasia and pulmonary interstitial collagen deposition, the treatment effect is significant, and the anti-inflammatory protection effect is related to a PI3K / AKT pathway.

The utility model discloses an abdominal aortic aneurysm susceptibility gene screening kit which comprises a tool box and an L-shaped working box, the L-shaped working box comprises a vertical part and a horizontal part, and the tool box is located on the horizontal part of the L-shaped working box; a plurality of clamping grooves are formed in the bottom in the horizontal part of the L-shaped working box, reagent strips are arranged in the clamping grooves, sample application areas, a strip I and a strip II are arranged on the reagent strips, sample adding holes are formed in the vertical part of the L-shaped working box and correspond to the reagent strips respectively, rotating covers are arranged on the sample adding holes, and bottom outlets of the sample adding holes correspond to the sample application areas of the reagent strips up and down. And a drawable baffle is arranged at the bottom of the sample adding hole. The kit is provided with a plurality of sample adding holes and a plurality of reagent strips, so that multi-gene joint detection is realized at the same time, and the detection result is more accurate.