BEST1 novel mutation disease-causing gene for retinosis diseases and kit thereof

Abstract

The invention relates to a BEST1 novel mutation disease-causing gene for retinosis diseases, and belongs to the field of molecular biology. Compared with the nucleotide sequence of the BEST1 gene shown in SEQ ID NO:1, a nucleotide sample of the novel mutation disease-causing gene has the following change of nucleotide c.1242G>A. The invention also relates to a mutant polypeptide coded by the novelmutation disease-causing gene. The BEST1 novel mutation disease-causing gene has the advantages that the mutation of c.1242G>A site of the BEST1 gene is related with the retinosis diseases; a kit forscreening the retinosis diseases is further provided, the retinosis diseases caused by the mutation disease-causing gene can be screened, and the guidance is provided for timely finding and timely treatment of a patient.

Description

technical field [0001] The invention belongs to the field of biotechnology, and relates to a new mutation-causing gene of BEST1 for retinal degenerative diseases and a kit thereof. Background technique [0002] Retinal degeneration, belonging to cone and rod dystrophy, is a group of genetic diseases characterized by night blindness, narrowed vision, fundus bone cell-like pigmentation and photoreceptor dysfunction. Sex-linked recessive inheritance, autosomal recessive or dominant inheritance can be seen, and sporadic. Human BEST1 gene mutations are associated with at least 4 different retinal degenerative diseases, which are collectively referred to as Best diseases, including: Best yolk-like macular dystrophy (BVMD), autosomal recessive Best disease (ARB), adult-onset yolk-like macular dystrophy Dystrophy and autosomal dominant vitreoretinopathy. Best macular dystrophy (BMD), or juvenile-onset vitelloid macular dystrophy, is an irregular autosomal dominant disorder with so...

AI Technical Summary

Problems solved by technology

The sequencing efficiency is high, but the price is expensive. In addition, this method is suitable for point mutations and deletion insertion mutations (micro mutations) within 20 bp, as well as homozygous deletion detection at the exon level, and is not suitable for large fragment copy number variations of heterozygous genes. The detection of special types of mutations such as dynamic mutations and complex recombinations is also not suitable for the detection of genomic structural variations (such as large deletions, duplications, and inversion rearrangements), large heterozygous insertion mutations (such as Alu-mediated insertions) and Mutations located in gene regulatory regions and deep intronic regions

In addition, due to the presence of high-repetition low-complexity regions or pseudogenes in some genes, the detection cannot completely cover all exon regions

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