Authors: Yuan Fang Maosheng Gu Chuanxia Wang Feng Suo Guangming Wang Yujuan Xia
Publish Date: 2015/02/04
Volume: 73, Issue: 1, Pages: 41-44
Abstract
Mutations in gap junction proteins encoding beta connexions are believed to be a major cause for congenital hearing loss The purpose of this study was to do comparative analyses of frequencies of most prominent mutations responsible for congenital deafness Using fluorescence PCR method the entire coding region of GJB2 gene GJB3 gene and SLC26A4 was analyzed Direct DNA sequencing was used to analyze mutations in these genes among unrelated 2674 cases of newborns Also 12S rRNA mutation was also studied in these cases In 2674 cases of newborns from June 2013 to June 2014 found deafness mutation in 137 cases 512 of carrier rate carrying GJB2 mutations in 68 cases 254 of carry rate GJB3 mutations in 10 cases 037 of carry rate SLC26A4 mutations in 54 cases 202 of carry rate and mitochondrial 12S rRNA mutations in five cases 019 of carry rate The study concludes that GJB2 gene mutation is the most common and mitochondrial 12S rRNA mutations are the least common mutation for congenital hearing loss in Chinese newborns
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