线粒体COI基因7445位点在感音神经性耳聋中的突变  

Mitochondril COI gene 7445 point mutation in sensorineural hearing loss

作　　者：程春美[1] 张慰天[1] 杜宝东[1] 全成实[2] 

机构地区：[1]吉林大学第一医院耳鼻咽喉-头颈外科,吉林长春130021 [2]吉林大学基础医学院病理生物学教育部重点实验室,吉林长春130021

出　　处：《吉林大学学报（医学版）》2005年第6期872-874,共3页Journal of Jilin University：Medicine Edition

基　　金：吉林省科技厅资助课题(990590)

摘　　要：目的:筛查线粒体基因(mtDNA)COI 7445点突变在感音神经性耳聋(SNHL)人群中的发病率,以探讨该突变在SNHL发病中的作用.方法:采用PCR-限制性内切酶多态性分析(PCR-RFLP)和DNA测序等技术,对150例5～19岁单纯性SNHL患者进行mtDNA的COI基因7445位点突变的检测.结果:150份样品均为7445G点突变阴性,但在1例无家族史、而有氨基糖甙类抗生素接触史的语前聋标本7444A位点发生突变.结论:mtDNA 7445G点突变在中国散发的耳聋人群中很少发生;7444A点突变也许是氨基糖甙类抗生素致聋的又一分子基础.Objective To screen the incidence of mtDNA 7445G point mutation among the patients with sensorineural hearing loss （SNHL）. Methods COI gene mutations were detected in 150 cases of SNHL （aged from 5 to 19 years old） with the method of PCR-RFLP-DNA sequencing. Results COI gene 7445 point mutation was not found in the all samples with SNHL. One novel 7444A point mutation was observed in one case of SNHL. Conclusion The 7445G mutation is seldomly appealed among the cases of SNHL in China, 7444A mutation may be one of the molecular biological basics related to the aminoglycoside antibiotic-induced deafness.

关 键 词：听觉丧失 感音神经性 线粒体 点突变 

分 类 号：Q754[生物学—分子生物学] R764.43[医药卫生—耳鼻咽喉科]