关键词: 听觉丧失, 遗传筛查, 非综合征性耳聋, GJB2基因, SLC26A4基因

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.

Key words: Hearing Loss, Genetic Screening, Non-syndromic hearing impairment, GJB2 gene, SLC26A4 gene