A pathogenic mutation of hereditary cone dystrophy and its detection reagent

Abstract

The invention discloses pathopoiesia mutation of a hereditary cone cell malnutrition disease and a detection reagent thereof, and discloses an LCA5 gene for detecting mutation of the hereditary cone cell malnutrition disease. The LCA5 gene for detecting mutation is biallele heterozygosis mutation LCA5p.[Ala212Pro];[Tyr441Cys]. A kit for detecting the hereditary cone cell malnutrition disease comprises a regent for detecting that the physical positions of the LCA5 gene are nucleotide sites of 80223015 and 80197493, or a regent for detecting a 212th or 441st nucleotide site of LCA5 protein; (b) specification. The pathopoiesia mutation LCA5 LCA5p.[Ala212Pro];[Tyr441Cys] of the hereditary cone cell malnutrition disease can be obtained, and by detecting the mutation, the hereditary cone cell malnutrition disease can be diagnosed.

Description

technical field [0001] The invention belongs to the field of biomedicine and relates to a pathogenic mutation of hereditary cone cell dystrophy and a detection reagent thereof. Background technique [0002] Cone dystrophy (CD) is a group of progressive retinal degenerative diseases caused by genetic defects. The main pathological feature of this type of disease is the irreversible apoptosis of cone cells. Some patients in the advanced stage of the disease may be combined with Damage to rod cells. The clinical manifestations of CD patients are the progressive decline of central vision in childhood, which can lead to blindness in severe cases. CD is a clinically common and serious hereditary blinding disease. It is a large category of blinding eye disease that seriously harms the working-age population worldwide. CD has a relatively high incidence in my country and even in the world. my country is a country with a large amount of CD genetic resources, but most of the genetic...

AI Technical Summary

Problems solved by technology

The positional cloning strategy based on linkage analysis is a classic method to identify the causative genes of single-gene genetic diseases, but it also faces some difficulties: ① usually requires multi-generation families, and it is difficult to analyze small families and sporadic cases

②Sometimes multi-generational families cannot locate the pathogenic locus

③ It is difficult to screen out the correct disease-causing gene in the linkage region

Existing studies have shown that mutations in the LCA5 gene can cause Leber congenital amaurosis (LCA), retinitis pigmentosa (RP) and early-onset retinal dystrophy (EORD). The relationship between the mutation and CD has never been reported or confirmed

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