一母系遗传氨基糖苷类抗生素致聋家系线粒体DNA A1555G突变检测

1555~G mutation detect for the mitochondrial DNA in a pedigree with maternally inherited hearing loss and sporadic non-syndromic deafness

目的应用耳聋基因芯片对一母系遗传氨基糖苷类抗生素致聋家系和散发的非综合征性耳聋患者进行分子病因学研究。方法采集一母系遗传耳聋家系2代共12人和散发非综合征耳聋患者68人的外周静脉血,从白细胞中提取DNA,聚合酶链反应(polymerase chain reaction,PCR)扩增,应用耳聋基因芯片检测中国人常见的药物性耳聋相关基因——线粒体DNA A1555G突变。结果家系中有7份样品存在线粒体DNA 12S rRNA 1555位点A→G的突变,其余样品为A1555G点突变阴性;而散发的耳聋患者中未检测出一例携带此突变。结论线粒体DNAA1555G点突变是导致该家系致聋的主要因素之一,具有母系遗传耳聋特点。

Objective To study the molecular etiology of a Chinese pedgree with maternally inherited amino glycoside antibiotics-induced deafness based on DNA microarray.Methods Twelve members in a Chinese pedigree with maternally inherited aminoglycoside antibiotic-induced deafness and 68 sporadic non-syndromic deafness were included in this study.Their genomic DNA samples were extracted from isolated leukocytes.The mitochondrial DNA target fragments were amplified by polymerase chain reaction （PCR） for detecting the mitochondrial DNA 1555G mutation with the DNA microarray.Results Seven individuals in this pedigree carried A → G mutation at the 1555th bp of mitochondrial 12S rRNA.No 1555G mutation was found in sporadic cases.Conclusion The mitochondrial DNA 1555G mutation may be one of the major factors resulting in aminoglycoside antibiotic-induced deafness in this pedigree,and the 1555G carriers were mainly distributed in the pedigree with maternally inherited deafness.