中国人非综合征性耳聋患者线粒体基因组C1494T突变筛查  

Molecular genetic analysis of mitochondrial DNA C1494T mutation in non-syndromic hearing loss of Chinese population

作　　者：田古[1] 刘玉和[2] 马袢楠[3] 李玉杰[1] 张英[3] 钮淑兰[3] 许玉凤[3] 裴佩[3] 王松涛[3] 卜定方[3] 杜博冉[4] 周湘[4] 柯肖玫[2] 戚豫[3] 

机构地区：[1]北京大学第一医院儿科,100034 [2]北京大学第一医院耳鼻咽喉头颈外科 [3]北京大学第一医院中心实验室 [4]北京市第四中学

出　　处：《中华医学遗传学杂志》2007年第4期464-466,共3页Chinese Journal of Medical Genetics

摘　　要：目的进行非综合征性聋患者的线粒体DNA C1494T突变的分子流行病学调查。方法对中国人群中20例氨基糖甙类药物致聋患者、136例散发的非综合征性聋患者以及50例非综合征性聋家系先证者，以聚合酶链反应结合限制性片段长度多态性分析法检测线粒体DNA C1494T突变的发生情况。结果全部受检者无线粒体DNA C1494T突变的发生。结论中国人群中非综合征性聋患者的线粒体DNA C1494T突变的发生率较低，且明显低于线粒体DNA A1555G的突变发生率。通过聋病分子流行病学调查，提示线粒体DNA C1494T突变不是氨基糖甙类药物致聋的主要病因。Objective To conduct a molecular epidemiological survey on the mitochondrial DNA C1494T mutation in non-syndmmic hearing loss patients in Chinese population. Methods Polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） were used to screen the mitochondrial DNA 12S rRNA C1494T mutation in 20 patients with aminoglycoside antibiotic induced hearing loss, 136 sporadic non-syndmmic hearing loss patients and 50 pmbands of pedigrees with non-syndromic hearing loss. Results The C1494T mutation did not appear in all cases except for the positive control. Conclusion Incidence of mitochondrial DNA C1494T mutation is much lower than that of mitochondrial DNA A1555G mutation in non-syndromic hearing loss of Chinese population. Mitochondrial DNA C1494T mutation may be a rare variation in non-syndromic hearing loss and is not the main cause of aminoglycoside antibiotic induceddeafness.

关 键 词：耳聋 线粒体DNA 突变 病因 

分 类 号：R686[医药卫生—骨科学]