Analysis on Association between Molecular Evolution of Human GJB2 Gene and Hereditary Effect with Deafness
Gap junction protein β2 （GJB2） gene mutations are close associated with the hereditary non-syndromic hearing loss.Because of their wide mutation types and specific high frequency mutations,it was considered to be an unique deafness gene.In this research,GJB2 proteins were systematically studied with the means of bioinformatics including molecular phylogeny,conservation,transmembrane region,three-dimensional structure and missense mutation analysis,and also correlation analysis was carried out by combining some previous reported experimental results.166 amino acid fixed sites,two non-conserved regions and 2 sites of conserved spatial structure were predicted.Association analysis confirmed that high pathogenicity was the occurrence of mutations in the conserved sites,low probability of pathogenicity happened in non-conservative mutations as well.The mutations in transmembrane regions with the property of amino acid changing may affect the spatial structure of proteins leading to change the permeability of membrane channels.This study would provide a theoretical basis for further study of the deafness associating with GJB2 gene mutations and molecular mechanics of pathogenesis,and also the research ideas have a certain reference value for other diseases.
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