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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 investigate the relationship between the clinical phenotype and gene mutation in maternal genetic aminoglycoside-induced deafness pedigree. Methods: The clinical data and blood samples of 6 maternal hereditary non-syndromic deafness families from different ethnic groups in Zunyi, Guizhou Province were collected. The mitochondrial DNA 1555G, 3243G and 7445G mutations were detected by PCR-RFLP and sequencing. Mitochondrial DNA hypervariable region sequence analysis and coding region restriction fragment polymorphism analysis to delineate haplogroups. Results: Mitochondrial DNA 1555G mutation was found in 4 of the four families. However, no mitochondrial DNA 3243G and 7445G mutations were found. Six deaf families belong to A, D6, D, G, B5 a and M * haplotype respectively. CONCLUSION: Mitochondrial DNA 1555G mutation causes a high incidence of aminoglycoside-sensitive deafness in pedigrees, suggesting that mitochondrial DNA 1555G mutation may have some clinical value.