CRYBB2 gene mutant, polypeptide, kit, construct and recombinant cell

Abstract

The invention belongs to the technical field of biological gene engineering, and discloses a CRYBB2 gene mutant, a polypeptide, a kit, a construct and a recombinant cell. The nucleic acid of the CRYBB2 gene mutant is 223-site nucleotide of a fourth exon, and G-A mutation exists; the polypeptide has p.E75K mutation and is obtained by encoding the nucleic acid for encoding the CRYBB2 mutant; the kit for screening the biological sample susceptible to the congenital cataract contains a reagent for specifically detecting a CRYBB2 gene mutant p.E75K; the nucleic acid construct contains the CRYBB2 gene p.E75K mutant; and the recombinant cell is obtained by transfecting a recipient cell with the nucleic acid construct containing the CRYBB2 gene p.E75K mutant. The kit can be used for auxiliary diagnosis of congenital cataract, is used for discovering potential carriers of hereditary cataract, and provides a basis for prenatal gene diagnosis of the disease.

Description

technical field [0001] The invention belongs to the technical field of biogenetic engineering, and in particular relates to a CRYBB2 gene mutant, polypeptide, kit, construct and recombinant cell. Background technique [0002] At present, congenital cataract is a serious blinding lens disease, which is caused by the abnormal metabolism of the embryonic lens, which leads to the decrease of its own transparency. Clinically, congenital cataracts can be manifested as lens opacities of various shapes such as nuclear, anterior, and posterior poles. Leukocoria is the most common manifestation of congenital cataract in newborns, while incomplete cataract often presents with abnormalities such as poor vision, strabismus, and nystagmus. The incidence of this disease is about 0.01% to 0.06%, accounting for the second cause of blindness in children. Genetic, metabolic, traumatic, and infectious factors can all contribute to childhood cataracts. Among these causes, hereditary cataracts...

AI Technical Summary

Problems solved by technology

At present, there is no report about congenital cataract caused by CRYBB2 gene E75K mutation

[0005] Through the above analysis, the existing problems and defects of the existing technology are: there is currently no report of congenital cataract caused by the E75K mutation of the CRYBB2 gene in the world, and there is a lack of functional data on the polypeptide encoded by the new mutation of the CRYBB2 gene, which affects the pathogenicity of the new mutation rating, which hinders the establishment of a clinical diagnosis of the disease and the conduct of prenatal genetic diagnosis for subsequent births in related families

[0006] The difficulties in solving the above problems and defects are: currently there is no directly available construct of the CRYBB2 gene with a specific mutation for in vitro functional studies; there is a lack of CRYBB2 polypeptide with a specific mutation; there is no recombinant cell with a specific mutation construct , these several issues have hindered the pathogenicity rating of de novo variants in the CRYBB2 gene

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