Single nucleotide polymorphic sites of BMP6 and BMP7 genes related to ONFH risk, combined detection substance and application

A risk and location technology, applied in recombinant DNA technology, biochemical equipment and methods, and microbial assay/inspection, etc. Problems such as joint pathogenicity of minor genes

Pending Publication Date: 2020-12-01
JILIN UNIV
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  • Abstract
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  • Claims
  • Application Information

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Problems solved by technology

[0014] However, at present, there are major bottlenecks in the research field of ONFH gene polymorphism at home and abroad. There are many data on scattered research gene loci, and there is little data on systematic research on multiple gene loci, which is not conducive to the joint pathogenicity of multiple minor genes. Elaboration of molecular etiology and molecular pathogenesis

Method used

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  • Single nucleotide polymorphic sites of BMP6 and BMP7 genes related to ONFH risk, combined detection substance and application
  • Single nucleotide polymorphic sites of BMP6 and BMP7 genes related to ONFH risk, combined detection substance and application
  • Single nucleotide polymorphic sites of BMP6 and BMP7 genes related to ONFH risk, combined detection substance and application

Examples

Experimental program
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Embodiment 1

[0050] Embodiment 1, the application of BMP7 and BMP6 gene polymorphism combination in the detection of molecular early warning, molecular diagnosis and therapeutic drug target of non-traumatic necrosis of the femoral head;

[0051] 1. Establish ONFH case-control study system

[0052] Based on informed consent, the ONFH case-control study system included 600 cases, including 300 cases in the healthy control group and 300 cases in the ONFH patient group.

[0053] ONFH cases came from inpatient clinical patients who visited the Department of Orthopedics of the Second and Third Clinical Medical Colleges of Jilin University from June 2012 to October 2018, including 204 males and 96 females, aged 54.49±11.8 years. The clinical diagnosis and staging of ONFH were carried out according to the Ficat diagnosis and staging criteria after excluding obvious hip trauma history, congenital hip joint diseases, hip joint infectious diseases and hip joint tumors.

[0054] The healthy control g...

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Abstract

The invention provides application of BMP7 and BMP6 gene 7SNPs markers or a marker combination in ONFH molecular early warning, clinical molecular diagnosis and typing, and drug therapy targets. The pairwise interaction of 6SNPs is obviously related to the ONFH onset risk, and the risk correlation is partially or completely different from the action of the single SNP on the ONFH onset risk. the synergistic effect of a plurality of SNPs on the ONFH risk is found more clearly according to the result of the gene interaction, ONFH is further verified to be a complex disease caused by combination of a plurality of micro-effect genes, the combined effect of the molecular genetics sites is described, and the markers have important value for ONFH early-stage molecular early warning and molecular prevention and control strategy establishment.

Description

technical field [0001] The invention belongs to the field of biotechnology, in particular to BMP7 gene single nucleotide polymorphic sites rs230205 (A / G), rs12438 (T / C), rs17404303 (T / C), BMP6 gene single nucleotide polymorphic sites rs3812163(T / A), rs1235192(A / C), rs1107495(G / A), rs1043784(C / T) markers or a combination of markers are used in the preparation of diagnosis or auxiliary diagnosis, preparation evaluation or auxiliary evaluation of human patients to be tested The application in ONFH risk products is further used for ONFH molecular early warning, clinical molecular diagnosis and typing, and drug treatment targets. Background technique [0002] Osteonecrosis of the femoral head (ONFH) is a complex disease caused by the joint action of genetic factors and environmental factors. In the past 10 years, the incidence of ONFH has shown an increasing trend year by year. It is estimated that 20,000 to 30,000 patients are newly diagnosed as ONFH in the United States every...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/156
Inventor 宋旸赵昕杜珍武李照彦王庆宇张桂珍
Owner JILIN UNIV
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