Gene relevant mutational site of mitochondrial deaf and application

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 ...

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.

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