Gene mutation type and gene order surveying method

A kind of mutation type and type technology, applied in genetic engineering, plant genetic improvement, botanical equipment and methods, etc., can solve the problems of not being applicable to large-sample mutation screening, only screening, etc.

Inactive Publication Date: 2006-11-29
XUANWU HOSPITAL OF CAPITAL UNIV OF MEDICAL SCI
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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

Method used

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  • Gene mutation type and gene order surveying method
  • Gene mutation type and gene order surveying method
  • Gene mutation type and gene order surveying method

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Embodiment

[0056] The present invention first selects three groups of people as the research object, which are respectively:

[0057] 1. Patients with Wilson's disease: 50 patients with Wilson's disease were from the Department of Neurology, The First Affiliated Hospital of Sun Yat-sen University. The clinical diagnostic criteria were (1) history of liver disease or liver disease symptoms / extrapyramidal system symptoms; (2) significantly lower serum ceruloplasmin and / or increased liver copper; (3) corneal K-F ring positive; (4) positive family history. Meet the above (1) (2) (3) or (1) (2) (4) that is clinically diagnosed as Wilson disease.

[0058] 2. Normal control group: 50 cases of healthy control group were from the Department of Neurology and Epidemiological Investigation and Research of Xuanwu Hospital of Capital Medical University. They had no neurological hereditary disease, mental illness, or family history of neurological disease. Age, sex and Wilson disease patients were m...

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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...

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Application Information

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IPC IPC(8): C12N15/12C12Q1/68G01N30/02
Inventor 陈彪杨静芳
Owner XUANWU HOSPITAL OF CAPITAL UNIV OF MEDICAL SCI
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