Screening of Mutations of Deafness-related Genes in 201 Preconception Women
LIANG Yue-hong
REN Chen-chun
WANG Wen-jing
ZHANG Hai-xia
YANG Wei-wei
LI De-ming
ZHANG Yue-xiang
Abstract：Objective:To screen the mutations of four major deafness-related genes in preconception women,and to evaluate the frequency and type of common mutations of child-bearing aged women in Tianjin area.Methods:Nine mutations in four genes including GJB2,SLC26A4,GJB3 and mtDNA 12S rRNA were analyzed in 201 preconception women using a designed genechip.The partner of the mutation carrier was detected by Sanger sequencing of GJB2 or SLC26A4 gene.Results:Ten women (4.98％) carried one mutation.Among them,six carried a mutation of GJB2 gene,three carried a mutation of SLC26A4 gene,and one carried a mutation of mtDNA 12S rRNA.The partner of one carrier with the 235delC heterozygosis mutation of GJB2 gene carried the mutation 109G＞A heterozygosis mutation.Conclusions:Screening of the mutations of deafness-related genes is an effective method to find those carriers and to reduce the birth rate of deaf children.
Keywords：Hearing LossGenetic ScreeningNon-syndromic hearing impairmentGJB2 geneSLC26A4 gene
Publication Date：2017-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：3( 385-387 )