非综合征性耳聋家系的临床分析与基因检测

Clinical analysis and gene detection of family pedigree with non-syndromic hearing loss

目的:探讨母系遗传氨基糖甙类抗生素致聋家系的临床表型与基因突变的关系。方法:收集贵州省遵义地区不同民族的6个母系遗传非综合征性耳聋家系的临床资料及血液样本,经PCR-RFLP及测序技术检测线粒体DNA 1555G、3243G、7445G突变,并通过对各家系线粒体DNA高变区序列测定及编码区限制性片段多态性分析以划分单倍型类群。结果:经酶切及测序证实其中4个家系存在线粒体DNA 1555G突变,但未发现线粒体DNA 3243G、7445G突变。6个耳聋家系分别属于A、D6、D、G、B5 a及M*单倍型。结论:该地区线粒体DNA 1555G突变引起氨基糖甙类抗生素高度敏感致聋的家系发生率较高,提示线粒体DNA 1555G突变检测有一定的临床应用价值。

Objective： To explore the relationship between clinical phenotype and gene mutation in family pedigree with maternal inheritance aminoglycoside antibiotics induced hearing loss. Methods： The clinical data and blood samples of 6 family pedigrees of different nationalities with maternal inheritance non - syndromic hearing loss in Zunyi, Guizhou were collected, PCR - RFLP and DNA sequencing were used to detect mitoehondrial DNA （mtDNA） 1555G, 3243G and 7445G mutations, then haplogroups were classified based on the above results. Results： mtDNA 1555G mutation was detected in 4 out of 6 family pedigrees, but mtDNA 3243G mutation and 7445G mutation were not found; 6 family pedigrees with maternal inheritance non -syndromic hearing loss belonged to A, D6, D, G, BSa and M ＊ haplogroups, respectively. Conclusion： The incidence of family pedigree with aminoglycoside antibiotics induced bearing loss due to mtDNA 1555G mutation in Zunyi is comparatively high, which indieates that the detection of mtDNA 1555G mutation has a certain clinical application value.