表型相同不同基因型耳聋夫妇的遗传咨询

The same phenotype different genotype deaf couples of genetic counseling

目的利用基因诊断方法分析耳聋家庭的分子致病机制,并通过耳聋基因的鉴别,为不同发病原因的耳聋家庭提供准确的遗传咨询。方法共有3个耳聋家庭参加研究,3个家庭的夫妇均为聋哑人,所有受检患者均采集外周血并提取DNA,进行GJB2、GJB3、SLC26A4、线粒体12SrRNA中9个热点突变进行检测。结果 1号家庭丈夫携带SLC26A4杂合突变,妻子携带12SrRNA均质突变;2号家庭丈夫携带SLC264A杂合突变,妻子携带SLC26A4杂合突变及GJB2杂合突变;3号家庭丈夫及妻子均未检出9个耳聋基因位点突变。结论进行GJB2、GJB3、SLC26A4、线粒体12SrRNA四种基因检测,可以明确大部分遗传性耳聋的原因。就其检测结果对耳聋家庭进行遗传咨询是预防耳聋家庭再次生育聋儿的有效方法。

Objective To analyze the molecular pathogenesis of deafness family by gene diagnosis method, and to provide accurate genetic counseling for the families with different causes of hearing loss through the differential gene. Method A total of 3 deaf families participated in the study, 3 families were deaf mute, all patients were collected peripheral blood and extracted DNA, GJB3, SLC26A4, GJB2, mitochondrial 12SrRNA 9 hot spot mutations were detected. Results The first families with GLC26A4 mutations, the wife carrying 12SrRNA mutation; the second family husband with SLC264A heterozygous mutation, the wife carrying SLC26A4 heterozygous mutation and GJB2 mutation; the third family husband and wife were not detected in 9 deaf gene mutation. Conclusions GJB3, SLC26A4, GJB2 and mitochon- drial 12SrRNA four gene can be detected, which can identify the causes of most of the hereditary hearing loss. The detection results of deafness family genetic counseling is an effective method for the prevention of deafness family birth again in deaf children.