17 results about "Genetic predisposition" patented technology

The invention discloses a genetic locus marker combination for diagnosis or prognosis evaluation of keloid susceptible population as well as a detection method and application of the genetic locus marker combination, and belongs to the field of detection, and genetic loci comprise the following loci: rs873549, rs1442440, rs2271289, rs17431184 and rs2299939. According to the invention, the genetic susceptibility of Keloid keloid in North China can be comprehensively predicted according to genotype detection results of the selected five gene loci. Therefore, targeted treatment on the patient is achieved, and the curing possibility of the patient is improved.

The invention relates to application of an OIP5-AS1 gene in screening of alcohol use disorder, and belongs to the technical field of screening of alcohol use disorder. In order to solve the problem that an existing AUD screening method lacks a molecular marker related to genetic susceptibility and is difficult to realize early intervention and individualized prevention, the invention provides application of an OIP5-AS1 gene in alcohol use disorder screening, and particularly relates to application of the OIP5-AS1 gene in preparation of an alcohol use disorder screening kit. The OIP5-AS1 in a sample is amplified and detected through real-time fluorescent quantitative PCR (polymerase chain reaction) by taking plasma of a subject as a detection object, and if the relative expression quantity of the OIP5-AS1 gene reaches 1.53 threshold or above, the subject has genetic susceptibility to alcohol use disorder. The OIP5-AS1 gene as a marker can provide objective and quantifiable detection indexes, reflect individual genetic susceptibility and realize long-term risk prediction, and has important clinical application value.

The invention relates to the technical field of biological medicines, in particular to application of a ZNF710 gene in preparation of a preparation for hepatocellular carcinoma diagnosis and / or prognosis evaluation. The invention finds and verifies that ZNF710 is closely related to prognosis of liver cancer for the first time and is a key gene for occurrence and development of tumors, and patients with low expression of the ZNF710 gene have higher survival rate. Therefore, compared with the prior art, a novel liver cancer diagnosis and treatment scheme taking the ZNF710 gene as the molecular marker has relatively high clinical application value and potential.

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.

The present application relates to the field of forensic pathology, forensic genetics and molecular identification technology, in particular to a primer composition for evaluating genetic susceptibility of unexplained sudden death, products and applications thereof. The primer composition provided by the present application comprises nucleotide sequences such as amplification primers shown in SEQ ID NO. 1-512, that is, 256 pairs of primers related to 238 quantitative trait loci. The present application further provides products and methods for evaluating genetic susceptibility of unexplained sudden death of individuals. Experimental results show that the primer composition or kit provided by the present application can detect consistent and highly repeatable genotyping results, and on this basis, the genetic susceptibility of unexplained sudden death can be further evaluated by calculating the polygenic risk score, which has important significance for the genetic background research of unexplained sudden death and the accurate cause of death identification in sudden death related cases in forensic identification work.

This provides a means to accurately and easily determine an individual's genetic predisposition to vascular aging. [Solution] A method for determining the genetic risk of vascular aging, comprising the steps of: detecting alleles of single nucleotide polymorphisms (SNPs) at the 51st base of one or more sequences identified in (A) to (E) below from a DNA-containing sample taken from a subject; and determining that the subject is prone to developing symptoms related to vascular aging if the detected allele's base is a risk allele. (A)SNP:ID rs17108108 (B)SNP:ID rs2271987 (C)SNP:ID rs6470860 (D)SNP:ID rs2284972 (E)SNP:ID rs12028323

Compositions, methods, and systems for modifying sterol metabolism in a subject is disclosed. In some embodiments, the subjects may be administered one or more mammalian cells modified to express at least one sterol degrading enzyme derived from a bacterium. In many embodiments, the cell is a macrophage or monocyte stably expressing three or more enzymes that aid in opening the β ring of cholesterol. The disclosed compositions and methods may be useful in lowering cholesterol levels in a subject in need thereof. In some embodiments, the subject may have a genetic predisposition to atherosclerosis.

The application discloses a gene marker combination for evaluating HLH risk and use thereof, and belongs to the technical field of gene detection. The gene marker combination is obtained by whole genome association analysis of whole exome sequencing, covers more extensive genetic information, solves the narrowness of the prior art, and provides more comprehensive analysis of the polygenic heterogeneity of HLH. Moreover, the cumulative effect of alleles is comprehensively considered, the genetic susceptibility characteristics of an individual to HLH can be more accurately reflected, and the sensitivity and specificity of gene detection can be improved.

The invention discloses a construction method and application of a colorectal cancer multi-gene genetic risk assessment model. A Chinese population colorectal cancer multi-gene genetic risk prediction model is constructed based on colorectal cancer related genetic susceptibility sites by utilizing resources such as large-scale prospective queue research and population-based screening random control tests. The model can predict colorectal cancer onset risks of people with different risk degrees, a risk layering scheme is determined on the basis of the colorectal cancer onset risks, a set of grading screening scheme with high popularization and application value is formed by combining a mature colorectal cancer screening technology, and a new strategy is provided for colorectal cancer risk grading.

Systems and methods for mitigating prostate cancer development are provided. Peripheral blood cells may be evaluated for the presence or quantity of gamma-H2AX foci, and / or for gene alterations encoding a protein with impaired or lack of function, for example, because the encoded protein is truncated, and correlating with prostate cancer development. Such nucleic acids may encode proteins from or peripheral to the DNA damage repair pathway and / or androgen receptor signaling pathway, or that are otherwise correlated with prostate cancer development. Such genes include one or more of AKR1C1, PALB2, APTX, BLM, BRCA1, CTBP1, DDB2, FANCA, FANCL, MBD5, MSH3, NEIL3, RAD51D, RAD54L2, SP1, TP53BP1, UBE2D3, UBE2V2, NRIP1, EFCAB6, CRISP3, PAPSS2, ATP6V0A2, ALG13, MGAT2, B3GAT3, DOLK, FLT3, ASXL1, KDR, or NOTCH2.

The present disclosure is related, at least in part, to methods of screening subjects, such as pediatric subjects, for diseases and conditions. In some embodiments, the pediatric subjects are seemingly healthy subjects. In some embodiments, the method of assessing genetic predisposition to a set of diseases in a subject, comprises obtaining a sample from the subject, collecting genetic material from the sample, and assessing the presence or absence of at least one pathogenic variant or a likely pathogenic variant for each disease in the set of diseases described herein.

In one aspect, the invention provides a method of screening a human subject to determine if said subject has a genetic predisposition to develop, or is suffering from Facioscapulohumeral Dystrophy (FSHD), said method comprising: (a) providing a biological sample comprising genomic DNA from the subject; and (b) analyzing the portion of the genomic DNA in the sample corresponding to the distal D4Z4-pLAM region on chromosome 4 and determining the presence or absence of a polymorphism resulting in a functional polyadenylation sequence operationally linked to exon 3 of the DUX4 gene.

The invention relates to an endometrial cancer molecular typing, medication and genetic susceptibility related gene detection kit and application thereof. The detection kit comprises a probe group for targeted medication related genes, genetic susceptibility related genes, immunotherapy related genes and molecular typing related genes. On the basis of a next-generation sequencing technology, more than 100 genes highly related to development of endometrial cancer can be detected at a time by utilizing a hybrid capture method, and the genes comprise genes related to targeted medication, genes related to genetic susceptibility, genes related to immunotherapy and genes related to molecular typing. The probe is wide in coverage, high in sequencing depth and capable of detecting germline variation of all exon regions of related genes. The invention can report endometrial cancer targeted medication related variation and immunotherapy related variation, also can report all related diseases of genetic susceptibility related genes, and provides genetic modes corresponding to the diseases.

This invention belongs to the field of biodetection technology, specifically relating to a combination of SNP molecular markers for assessing the genetic risk of VKH disease and its application. This SNP molecular marker combination consists of 22 SNP molecular markers. Based on this SNP molecular marker combination, the AUC value for assessing the genetic risk of VKH disease can reach 0.85, indicating high accuracy. It can assess genetic susceptibility before the onset of clinical symptoms, making it suitable for early screening and risk stratification; it reduces reliance on physician subjective experience and improves the objectivity and stability of VKH disease risk assessment.

In one aspect, the invention provides a method of screening a human subject to determine if said subject has a genetic predisposition to develop, or is suffering from Facioscapulohumeral Dystrophy (FSHD), said method comprising: (a) providing a biological sample comprising genomic DNA from the subject; and (b) analyzing the portion of the genomic DNA in the sample corresponding to the distal D4Z4-pLAM region on chromosome 4 and determining the presence or absence of a polymorphism resulting in a functional polyadenylation sequence operationally linked to exon 3 of the DUX4 gene.

This invention discloses a comprehensive decision support method and system for potential oral malignant diseases, comprising: constructing a pre-diagnosis risk prediction agent that integrates patient behavioral risk factors, genetic susceptibility markers, and multispectral initial screening images; generating a malignancy probability trajectory and triggering tiered screening through a time-series prediction model; establishing an in-diagnosis precision assessment agent that performs differential homeomorphic registration of autofluorescence and narrowband imaging images to generate fused data, and constructing an interpretable reasoning network to locate critical areas of malignancy in conjunction with pathological grading; constructing a post-diagnosis dynamic monitoring agent that establishes a digital twin model based on lesion baseline data, extracts mucosal texture and vascular morphological evolution features from each follow-up visit to generate malignancy trend curves and individualized intervention strategies; and constructing a multi-agent co-evolutionary framework that uses desensitized full-cycle data to perform federated closed-loop iterative optimization of the parameters of each agent. This aims to improve the early identification accuracy of precancerous lesion malignancy risk and optimize clinical intervention pathways.