Yi Fan¹ , Anzhu Yu¹ , Yun Yu² , Xinhuan Han² , Guangqian Xing² , Xin Cao²

1. Clinical Medical College, Nanjing Medical University, Nanjing, 210029, P.R. China
2. School of Basic Medical Sciences, Nanjing Medical University, Nanjing, 210029, P.R. China
Author    Correspondence author
International Journal of Molecular Medical Science, 2012, Vol. 2, No. 1   doi: 10.5376/ijmms.2012.02.0001
Received: 24 Mar., 2012    Accepted: 06 Jun., 2012    Published: 13 Jun., 2012

This article was first published in Genomics and Applied Biology (2012, 3(1): 26-34) in Chinese, and here was authorized to translate and publish the paper in English under the terms of Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Fan, 2012, Analysis on Association between Molecular Evolution of Human GJB2 Gene and Hereditary Effect with Deafness, International Journal of Molecular Medical Science, Vol.2, No.1 1-10 (doi: 10.5376/ijmms.2012.02.0001)

Gap junction protein β2 (GJB2) gene mutations are associated with the hereditary non-syndromic hearing loss. With their wide mutation types and specifically high frequent mutations, it was considered to be a 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 missence mutations analysis, combined with reported experimental results. 166 fixed amino acid sites, 2 non-conservative regions and 2 conservative sites of spatial structure were predicted. Association analysis results demonstrated that the mutations in conservative site were more likely to be pathogenic; the frequency of mutation sites in non-conservative regions was smaller than conservative regions; a mutation in transmembrane region changing the amino acid's property presumably affects GJB2 protein spatial structure and thus would alter the member channel's permeability. This paper provides a theoretical basis for further study of the relationship between GJB2 gene mutations and deafness, and it also may have the reference value for other diseases' research.

GJB2 gene; Nonsyndromichearing loss; Molecular evolution; Hereditary effect