Kit for diagnosing gene of Leber optic neuropathy in heredity and detecting method

Abstract

A reagent kit for the gene diagnosis of Leber's hereditary optical nerve (LHON) lesion which is caused by the mutations on 3 primary pathogenic sites (G11778A, G3460A and T14484C) is disclosed. Its detecting process includes such steps as designing and synthesizing the site specific PCR primer, using whole blood as DNA template, PCR amplification, and detecting said mutant sites of LHON patient.

Description

technical field [0001] The invention relates to a method for using genes to diagnose hereditary diseases, in particular to a genetic diagnosis kit for Leber's hereditary optic neuropathy and a detection method thereof. Background technique [0002] In 1871, German ophthalmologist Theodor Leber first reported a family of hereditary optic neuropathy, mainly manifested as acute or subacute bilateral central vision loss, only passed through the maternal line, often involving young males, now known as Leber's hereditary optic neuropathy (Leber's hereditary optic neuropathy) hereditary optic neuropathy, LHON). In 1988, Wallace et al. first discovered that LHON was associated with mitochondrial DNA (mtDNA) G11778A mutation. So far, there are more than 40 related mtDNA mutations reported, of which 90%-95% of LHON patients are associated with three primary mtDNA mutations (G11778A, G3460A and T14484C) related. The distribution of various primary pathogenic mutations is different in...

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Problems solved by technology

[0006] Retrieval of relevant materials including Chinese patents shows that using whole blood sample allele-specific multiplex PCR technology to simultaneously detect 3 primary mutation sites in LHON mitochondrial DNA by single-tube one-time PCR has not yet been reported.

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