遗传性耳聋相关基因在突发性耳聋发病中的作用

The role of genetic deafness-related genes in the pathogenesis of sudden deafness

目的 :通过分析遗传性耳聋相关基因在温州地区突发性耳聋患者发病中的作用,探讨突发性耳聋的分子病因学。方法:突发性耳聋患者102例(男52例,女50例)为实验组,无听力损伤的健康者110例(男53例,女57例)为正常对照组。对实验组突发性耳聋患者进行病因学调查,并抽取两组受检者的外周静脉血,分别提取DNA,多聚酶链反应(PCR)扩增遗传性耳聋相关基因GJB2、GJB3、GJB6目的片段,并将PCR扩增产物进行DNA测序,运用Chromas软件进行分析。结果:102例突发性耳聋患者中发现GJB2109G>A纯合突变6例,杂合突变16例;GJB2 79G>A纯合突变10例,杂合突变54例;GJB2 341A>G纯合突变6例,杂合突变48例;GJB3 357C>T纯合突变3例,杂合突变12例;GJB3 474G>A杂合突变1例。110例正常人中发现GJB2 109G>A纯合突变4例,杂合突变18例;GJB2 79G>A纯合突变18例,杂合突变46例;GJB2 341A>G纯合突变36例,杂合突变12例;GJB3 357C>T纯合突变3例,杂合突变15例。GJB2、GJB3基因突变率经卡方检验差异均无统计学意义(P>0.05)。实验组和对照组均未检测到GJB6有意义的突变。结论:突发性耳聋的发病与遗传性耳聋相关基因GJB2、GJB3、GJB6突变无相关性。

Objective： To analyze the role of hereditary deafness-ralated genes in the pathogenesis of patients with sudden hearing loss in the Wenzhou region, and to explore the molecular etiology of sudden hearing loss. Methods： One hundred and two cases of sudden deafness patients （male 52 cases, female 50 cases） were enrolled as experimental group, one hundred and ten cases of healthy volunteers （53 male, 57 females） with- out hearing impairment were enrolled as the normal control group. To carry out the etiology investigation among the experimental group, the hereditary deafness-related gene GJB2, GJB3 and GJB6 among all enrolled individu- als were sequenced and genotypes were detected using the Chromas software; the association between the hereditary deafness-related genes and sudden hearing loss were evaluated with chi-square test. Results： In 102 cases of sudden hearing loss patients, GJB2 109G〉 A homozygous mutation was found in 6 cases, heterozygous mutationg in 16 cases; GJB2 79G〉 A homozygous mutation in 10 cases and heterozygous mutations in 54 cases; GJB2 341A〉 G homozygous mutation in 6 cases and heterozygous mutations in 48 cases; GJB3 357C〉 T homozygous mutation in 3 cases, heterozygous mutations in 12 cases, GJB3 474G〉 A heterozygous muta- tion in 1 cases. In 110 healthy people, GJB2 109G〉 A homozygous mutation was found in 4 cases and heterozygous mutations in 18 cases, GJB2 79G〉 A homozygous mutation in 18 cases, heterozygous mutations in 46 cases; GJB2 341A〉 G homozygous mutation in 36 cases, and heterozygous mutations in 12 cases; GJB3 357C〉 T homozygous mutation in 3 cases, heterozygous mutations in 15 cases. The GJB2, GJB3 gene muta- tion rate using chi-square test showed no significant difference （P〉0.05）. The meaningful mutation of GJB6 was not detected in the experimental group and the normal group. Conclusion： The incidence of sudden hearing loss has no correlation with hereditary deafness ~enes of GJB2, GJB3 and GJB6 mutation.