一个新定位的非综合征型低频感音神经性听力下降家系WHRN基因突变分析  

An Analysis of WHRN Gene Mutations in a Novel Locus Mapped for the Chinese Pedigree Associated with Low-frequency Sensorineural Hearing Loss

作　　者：关静[1,2] 王秋菊[1] 王大勇[1] 李庆忠[3] 赵亚丽[1] 袁虎[1] 韩东一[1] 

机构地区：[1]解放军总医院耳鼻咽喉-头颈外科,解放军耳鼻咽喉科研究所,北京100853 [2]兰州大学第二医院耳鼻咽喉-头颈外科 [3]复旦大学附属眼耳鼻喉科医院耳鼻咽喉科

出　　处：《听力学及言语疾病杂志》2008年第3期182-185,共4页Journal of Audiology and Speech Pathology

基　　金：国家863项目(2006AA02Z181);北京市科技计划重大项目(D0906005040291);国家973项目(2007CB507400);北京重大专项课题项目(7070002);国家自然基金面上项目(30672310&30771203);高等学校全国优秀博士学位论文作者专项资金资助项目(200463);军队“十一五”杰出人才项目(06J018)

摘　　要：目的对一个新定位的非综合征型低频感音神经性听力下降家系位点区域内的WHRN基因进行突变检测,分析WHRN基因突变与该家系表型的关系。方法针对WHRN基因的全部编码序列设计11对引物,进行WHRN基因的PCR扩增,对PCR产物进行双向直接测序,检测WHRN基因突变。结果在WHRN基因的12个外显子中,检测到位于第6和第10个外显子上的3种序列改变方式,均为杂合性突变,这3种突变未与耳聋表型相分离。结论这个新定位的非综合征型低频感音神经性听力下降家系耳聋表型不是由WHRN基因编码区的突变所致。Objective To analyze the mutations of WHRN gene for the purpose of understanding the causative effects in a Chinese pedigree associated with an autosomal--dominant inherited low--frequency sensorineural hearing loss （LFSNHL）. Methods WHRN gene coding sequence was amplified by polymerase chain reaction （PCR） with 11 pairs of primers, and the bidirectional sequencing of PCR products was performed with DNAStar software. Results Three point mutations were detected including A440T located on exon 6 , V783A and N796K lo- cated on exon10, which were not co--segregate with the clinic phenotype in the pedigree. Conclusion WHRN gene mutations in coding regions are not related to the clinic phenotype in the LFSNHL pedigree.

关 键 词：低频感音神经性听力下降 耳聋 WHRN基因 突变 

分 类 号：R764.5[医药卫生—耳鼻咽喉科]