Gene mutation type and gene order surveying method

Abstract

The invention supplies Wilson's disease patient ATP7B gene mutation and distribution feature. It builds up the method to testing Wilson gene mutation point by DHPLC technology. The method includes the following steps: distilling DNA sample; taking primer designing, taking PCR amplification; taking testing and analysis to PCR amplification product; directly taking sequence test to determining mutation or polymorphism location points; mixing the sample of negative testing result of DHPLC with wild sample of equal ratio, and taking DHPLC test to identify mutation or wide type.

Description

technical field [0001] The invention relates to a gene and a detection method thereof, in particular to a detection method of a gene mutation type and a mutation site of hepatolenticular degeneration, also known as Wilson's Disease (WD). Background technique [0002] Hepatolenticular degeneration, also known as Wilson's Disease (WD), is an autosomal recessive genetic disease accompanied by copper metabolism disorder. According to foreign epidemiological survey data, its prevalence rate is 1.5-3.0 / 10 million, the gene frequency is 0.3%-0.7%, and the heterozygote frequency is estimated to be 1 / 100. There is no large-scale epidemiological report of this disease in my country. According to the analysis of newly diagnosed cases in the Department of Neurology of the First Affiliated Hospital of Sun Yat-sen Medical University from 1981 to 1991, Wilson's disease ranks second among all single-gene genetic diseases. [0003] In 1912, the British neurologist Wilson first reported a fa...

AI Technical Summary

Problems solved by technology

Although the PCR-enzyme digestion method is convenient, fast and low-cost to analyze gene mutations, it requires that the mutations to be analyzed must be known mutations and have suitable restriction sites. The limitations of this technique determine that it cannot be used for large-sample mutation screening. check

With the emergence of fluorescent PCR instruments, some scholars use this technology to detect WD gene mutations, but its disadvantage is still that it can only screen known mutation sites and needs to design probes for specific mutations

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