Application of single-nucleotide-polymorphism rs55882956 in screening of Hansen's disease sufferers

A single nucleotide polymorphism and polymorphism technology, applied in the determination/inspection of microorganisms, biochemical equipment and methods, DNA/RNA fragments, etc., can solve problems such as protein coding region variation

Active Publication Date: 2017-05-24
SHANDONG PROVINCIAL INST OF DERMATOLOGY & VENEREOLOGY
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Problems solved by technology

However, most of these common risk variants are located in non-coding regions and can only partially explain the risk of leprosy
At present, there is no systematic study on the variation of protein coding region, especially the low-frequency variation and rare variation

Method used

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  • Application of single-nucleotide-polymorphism rs55882956 in screening of Hansen's disease sufferers
  • Application of single-nucleotide-polymorphism rs55882956 in screening of Hansen's disease sufferers
  • Application of single-nucleotide-polymorphism rs55882956 in screening of Hansen's disease sufferers

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Experimental program
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Embodiment 1

[0065] Example 1, rs145562243, rs149308743, rs76418789, rs146466242, rs55882956, rs780668 and rs181206 are single nucleotide polymorphisms associated with leprosy

[0066] Methods: The inventor conducted genome-wide association analysis of protein coding regions on 7,048 leprosy patients and 14,398 normal controls in the Chinese population through three stages. First, 40,491 SNP sites (MAF>0.1%) in the coding regions of 1,648 leprosy patients and 2,318 normal controls were analyzed by exon microarray (first stage). The 34 candidate SNPs were then validated in a northern Chinese population (3,169 leprosy patients and 9,814 normal controls) (phase II). Finally, 8 candidate loci were validated in another selected southern Chinese population (2,231 leprosy patients and 2,266 normal controls) and all samples from the first and second stages (third stage).

[0067] research object

[0068] The subjects of the exome microarray discovery phase (Phase 1) were 1,670 leprosy patients a...

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Abstract

The invention discloses application of single-nucleotide-polymorphism rs55882956 in screening of Hansen's disease sufferers. The technical scheme protected by the invention is as follows: application of substances for detecting polymorphism or genotype of rs55882956 in a human genome in preparation of products for screening the Hansen's disease sufferers and application of the substances for detecting the polymorphism or genotype of the rs55882956 in the human genome in the preparation of products for detecting single nucleotide polymorphism related to Hansen's disease. The substances for detecting the polymorphism or genotype of the rs55882956 and other substances (such as substances for detecting other single nucleotide polymorphisms or genotypes related to the Hansen's disease) can be combined together so as to prepare products for screening the Hansen's disease sufferers.

Description

technical field [0001] The invention relates to the application of single nucleotide polymorphism rs55882956 in screening leprosy patients in the field of biotechnology. Background technique [0002] Leprosy, also known as Hansen's disease, is an infectious disease caused by Mycobacterium leprae (M.Leprae), which mainly invades the skin and peripheral nerves. In 2014, there were 213,889 new cases worldwide. Despite the existence of effective treatments, leprosy remains a major cause of teratogenicity and social problems in some countries, especially developing countries. In order to understand the genetic basis of leprosy susceptibility, the genome-wide association analysis (GWAS) of leprosy located 17 common variant sites, revealing the role of innate immunity and adaptive immunity in the pathogenesis of leprosy. However, most of these common risk variants are located in non-coding regions and can only partially explain the risk of leprosy. At present, there is no system...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68C12N15/11
CPCC12Q1/6883C12Q2600/156C12Q2600/172
Inventor 刘红
Owner SHANDONG PROVINCIAL INST OF DERMATOLOGY & VENEREOLOGY
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