非综合征性聋分子病因学分析——TMIE基因突变筛查报告  

Screening the mutations of TMIE gene in genetic nonsyndromic Hearing Loss

作　　者：刘玉和[1] 毕青玲[1] 柯肖枚[1] 马祎楠[2] 钟贞[1] 王全桂[1] 戚豫[2] 肖水芳[1] 

机构地区：[1]北京大学第一医院耳鼻咽喉头颈外科,北京100034 [2]北京大学第一医院中心实验室,北京100034

出　　处：《中国优生与遗传杂志》2009年第2期28-30,50,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨TMIE基因突变与中国人群非综合征性聋的关系以及TMIE基因突变频率和特性。方法收集中国人群中散发非综合征性聋患者123例、遗传性非综合征性聋家系先证者62例及部分成员、以及健康对照60例临床资料及外周血DNA,应用聚合酶链反应(polymerase chain reaction,PCR)扩增TMIE基因编码区片段,通过变性高效液相色谱法(denaturing high-performance liquid chromatography,DHPLC)筛查TMIE基因突变,经DNA测序检测突变。结果在两个散发非综合征性聋患者和一个常染色体显性遗传性非综合征性聋家系中先证者TMIE基因编码区PCR产物DHPLC结果异常,但序列检测没有发现TMIE基因编码区的突变,仅分别发现第二内含子区域IVS2-53G>A和第三外显子506A-G基因单核苷酸多态性呈杂合状态。其中506A-G单核苷酸多态未见有报道。结论中国人群中遗传性非综合征性聋患者TMIE基因突变频率较低,不可能是中国人群中非综合征性聋的主要致病基因。Objective： To investigate the relation between hereditary nonsyndromic hearing impairment （NSHI） in Chinese population and mutation in transmembrane inner ear expressed gene （TMIE） and to explore the prevalence in chinese. Methods： A total of 123 patients with sporadic NSHI, 62 probands from pedigrees with hereditary NSHI and 60 controls were collected in present studies. The coding sequence of TMIE gene was amplified by polymerase chain reaction （ PCR）, screened by denaturing high - performance liquid chromatography （DHPLC） and confirmed by direct sequencing. Results： The abnormal DHPLC results was found in 2 sporadic NSHI patient and a proband from autosomal dominant NSHI pedigree, but the TMIE gene mutation was not found in the present study, except for IVS2 - 53 G 〉 A （ in intron 2） and 506 A - G heterozygous SNP. There is no report about 506 A - G SNP. Conclusions ： Mutation of TMIE gene is not frequent in Chinese NSHI population. The prevalence of TMIE gene mutations is likely to be population specific.

关 键 词：聋 遗传性疾病 DNA突变分析 基因 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]