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SNP in KRT8 gene exon area and determination method thereof

A method to determine the exon technology, applied in the direction of DNA / RNA fragments, recombinant DNA technology, etc.

Inactive Publication Date: 2014-02-26
FOURTH MILITARY MEDICAL UNIVERSITY
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

There are still few reports on systematic analysis and research on the relationship between keratin gene variation and disease in my country
At the same time, there is currently no report on the location of rs11554491 on the gene KRT8

Method used

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  • SNP in KRT8 gene exon area and determination method thereof
  • SNP in KRT8 gene exon area and determination method thereof

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Embodiment Construction

[0021] Below in conjunction with embodiment, the present invention is described further.

[0022] (1) Research object

[0023] 1. Candidate gene SNPs detection samples

[0024] According to the American clinical practice guidelines: Primary biliary cirrhosis (Poupon R.Primary biliary cirrhosis: a2010update.J Hepatol.2010;52(5):745-58.) confirmed 76 samples of patients with primary biliary cirrhosis , relatives of the patients served as controls, and 215 cases were compared.

[0025] 2. Selected SNPs typing samples

[0026] 1) Primary biliary cirrhosis group (PBC group)

[0027] From the Department of Gastroenterology, Xijing Hospital Affiliated to Fourth Military Medical University, a total of 76 cases, with an average age of 51±11 (mean plus or minus standard deviation) years old, were diagnosed with primary biliary cirrhosis according to the American clinical practice guidelines: primary biliary cirrhosis Liver cirrhosis (Poupon R. Primary biliary cirrhosis: a2010 update...

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PUM

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Abstract

The invention discloses a SNP in KRT8 gene exon area and determination method thereof, and the SNP locus with G / T polymorphisms (GG) is at 12563 site of the eighth exon area of the KRT8 gene and has nucleotide sequences SEQ ID NO:1 and SEQ ID NO:2. The invention also provides a determination method of the SNP locus, and research and development of the polymorphisms can be applied to researches in the aspect of primary biliary cirrhosis, for example, control of primary biliary cirrhosis attack and hepatic cirrhosis degree or improvement of liver transplantation success rate.

Description

technical field [0001] The present invention relates to a nucleotide sequence of the SNP site in the exon region of KRT8 gene, and a method for determining the nucleotide sequence, which is applied to control the onset of primary biliary liver cirrhosis. Background technique [0002] The cytoskeleton consists of microfilaments, microtubules, and intermediate filaments in between. Keratin is the most important and abundant member of the intermediate filament family, divided into acidic (type Ⅰ, K9-28) and alkaline (type Ⅱ, K1-8, K71-80) two types. All epithelial cells express at least one type I and one type II keratin monomer, which form antiparallel dimers and then tetramers, constituting the basic soluble unit of keratin. Keratin is expressed in epidermal and epithelial cells and has tissue specificity. For example, hepatocytes and pancreatic acinar cells mainly express K8 and K18, and bile duct epithelial cells express K7 / K8 / K18 / K19, and a small amount of K20. In additi...

Claims

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Application Information

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IPC IPC(8): C12N15/11C12Q1/68
Inventor 韩英
Owner FOURTH MILITARY MEDICAL UNIVERSITY
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