携带线粒体12S rRNA基因突变的新生儿母系家族史分析

Maternal Family History of Newborns with Mitochondrial 12S rRNA Mutation

目的研究北京地区携带线粒体12S rRNA基因突变新生儿的耳聋家族史。方法通过门诊遗传咨询绘制家系图,统计分析北京市140例携带12S rRNA基因突变的新生儿母系家族中携带突变的人数、耳聋人数和用药史。结果平均每个家庭中携带12S rRNA基因突变母系家庭成员人数13.79人,听力障碍人数1.78人。有m.1555A>G异质突变的耳聋家族史的人数占比(11.5%)明显少于有m.1555A>G均质突变的耳聋家族史人数(50%)。结论携带不同12S rRNA基因突变类型可能对氨基糖苷类抗生素的易感性不同。

Objective To study the maternal family history of hearing loss in newborns with mitochondrial 12S rRNA mutation in Beijing.Methods Family trees were drawn based on genetic counseling.Total maternal family numbers with 12S rRNA mutation,members with hearing loss and drug using history were analyzed in the maternal family of 140 newborns with 12S rRNA mutation in Beijing.Results The average maternal family numbers with 12S rRNA mutation were 13.79,with hearing-impaired family number 1.78.Cases with homoplasmic mutation of m.1555A>G tended to have hearing-impaired family history(50%)than those with heteroplasmic mutation(11.5%).Conclusion The sensitivity of aminoglycoside antibiotics might be different for homoplasmic or heteroplasmic mutation of m.1555A>G.