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Gene relevant mutational site of mitochondrial deaf and application

A mitochondrial gene, mutation site technology, applied in the field of genomics

Inactive Publication Date: 2010-11-03
EYE & ENT HOSPITAL SHANGHAI MEDICAL SCHOOL FUDAN UNIV
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0002] Hereditary deafness is a common disease that seriously affects the quality of life. Clinical practice shows that there are no effective drugs and treatments at present, so it is very important to prevent the occurrence of this hereditary deafness.

Method used

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  • Gene relevant mutational site of mitochondrial deaf and application
  • Gene relevant mutational site of mitochondrial deaf and application
  • Gene relevant mutational site of mitochondrial deaf and application

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0031] Example 1 Clinical research experiment

[0032] 1. Select the research object:

[0033] In the outpatient department of the Eye, Ear, Nose and Throat Hospital Affiliated to Fudan University, a major deaf family that conforms to the maternal genetic law was obtained.

[0034] 2. Collection of specimens: 5ml of peripheral venous blood from the family members was collected after the approval of the ethics committee and the family members signed the informed consent for genetic testing.

[0035] 3. Extraction of whole genomic DNA: follow the instructions of the blood genomic DNA extraction kit, the kit is PAX gene TM Blood DNA Kit.

[0036] 4. Sequence analysis

[0037] (1) Using classic 24 pairs of mitochondrial primers for PCR amplification, the PCR product fragments obtained overlap each other, which can cover the entire mitochondrial sequence;

[0038] (2) PCR amplification

[0039] The PCR amplification system is 30ul, containing 100ng of genomic DNA template, 3pM each of the forw...

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PUM

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Abstract

The invention belongs to the field of genomics, particularly relating to the deaf relevant mutation 12201 T>C of mitochondrial gene and application. The sequence in which the deaf relevant mutation 12201 T>C of mitochondrial gene of the invention is positioned has the structure of sequence 1. The invention can adopt the deaf relevant mutation of mitochondrial gene to preferentially detect the mitochondria mutational site of deaf patients, which is favourable for eliminating or diagnosing deaf caused by mitochondrial gene mutation; a diagnostic probe prepared by deaf relevant new mutation of the mitochondrial gene, a primer for introducing mutation to cause enzyme cutting site and a kit are adopted to conveniently and quickly screen deaf relevant to mitochondria. The invention provides the reference base for function change caused by gene mutation and provides a favorable chance for disclosing the molecular mechanism of deaf caused by the mitochondria DNA mutation.

Description

Technical field [0001] The invention belongs to the field of genomics, relates to genes related to genetic diseases, and specifically relates to a new mutation site tRNA His 12201T>C related to mitochondrial gene deafness and uses thereof. Background technique [0002] Hereditary deafness is a common disease that seriously affects the quality of life. Clinical practice shows that there are no effective drugs and treatments, so it is very important to prevent the occurrence of this hereditary deafness. Studies have shown that the inheritance of hereditary deafness has autosomal dominant inheritance, autosomal recessive inheritance, sex-linked inheritance and maternal inheritance. Mitochondrial DNA is a genome independent of the chromosomes of the nucleus. It is only passed on to the next generation through women, but not from men. [0003] Studies have shown that mitochondrial gene mutations can cause a variety of diseases, and deafness caused by mitochondrial gene mutations is ...

Claims

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Application Information

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IPC IPC(8): C12N15/12C12Q1/68C12N15/11
Inventor 李华伟王正敏严旭坤孙珊何英姿陈帼玲李庆忠孙明之
Owner EYE & ENT HOSPITAL SHANGHAI MEDICAL SCHOOL FUDAN UNIV
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