近亲结婚所致非综合征型耳聋家系的线粒体基因突变分析  

Mutation analysis of12S rRNA andtRNA-Ser ^((UCN)) genes in a large Chinese family with maternally inherited nonsyndromic hearing loss by intermarriage

作　　者：舒安利[1] 纪宝虎[2] 秦炜[2] 冯国鄞[2] 聂玉正[3] 刘涛[4] 贺林[2] 

机构地区：[1]湖南省怀化医学高等专科学校基础医学部,上海交通大学biox中心418000 [2]上海交通大学BioX中心 [3]湖南省怀化市第三人民医院感染科 [4]湖南省怀化市第一人民医院普外科

出　　处：《中华医学遗传学杂志》2006年第3期303-305,共3页Chinese Journal of Medical Genetics

基　　金：国家科技攻关计划(2002BA711A07-14);湖南省教育厅资助科学研究项目(2005C019)~~

摘　　要：目的对一个呈母系遗传的非综合征型耳聋大家系进行线粒体DNA的突变检测。方法收集湖南省一个非综合征型遗传性耳聋家系成员外周静脉血,提取基因组DNA(含线粒体DNA),设计特异性引物对目的片段进行PCR扩增,直接测序检测突变类型。结果测序结果显示,线粒体12SrRNA基因A1555G突变为该家系的致病突变,非母系成员不存在这一突变。结论该家系中部分成员使用氨基糖甙类抗生素后出现耳聋,可能是因为药物与线粒体12SrRNA基因的A1555G突变共同参与了听力损伤过程。Objective To identify the possible mutation at possible sites in different mitochondrial genes that leads to hearing loss in a large Chinese pedigree. Methods Blood samples from a Hunan pedigree were obtained with informed consent. Genomic DNA was extracted from peripheral blood leukocytes using kit. The target fragments were amplitied and detected by polymerase chain reaction （PCR） and directly sequencing respectively. Results The result of direct sequencing revealed the A1555G mutation in 12S rRNA gene was inherited in this pedigree and no one has A7445G mutation or other mutations in its neighborhood region. Conclusion Sequence analysis continued that the pedigree carries the A1555G mutation. With some members ever exposure of aminoglycoside antibiotics, mutation of A1555G may play a pivotal role in the pathogenesis of hearing loss in the large pedigree.

关 键 词：非综合征型耳聋 线粒体DNA A1555G突变 氨基糖甙类抗生素 

分 类 号：R764[医药卫生—耳鼻咽喉科]