microRNA 96与语前非综合征型耳聋  

microRNA 96 and prelingual nonsyndromic hearing impairment

作　　者：陈沛伟 谌晖 陈观明[2] 付四清[3] 

机构地区：[1]湖北省恩施土家族,苗族自治州中心医院,恩施445000 [2]华中科技大学同济医学院附属同济医院耳鼻喉科 [3]华中科技大学同济医学院医学遗传学系,武汉430030

出　　处：《中国优生与遗传杂志》2013年第5期18-19,共2页Chinese Journal of Birth Health & Heredity

基　　金：教育部中央高校基本科研业务费专项资金资助项目(0109510019)

摘　　要：目的探讨学语前非综合征型耳聋患儿miR-96基因突变频率及突变方式。方法分别采集湖北地区125例非综合征型语前聋患儿及听力正常对照组100例的血样,应用PCR技术扩增miR-96基因的全序列,PCR产物进行直接测序,经Chromas软件进行测序结果分析。结果 125例患儿及正常对照组均没发现miR-96基因突变。结论 miR-96基因可能不是导致湖北地区非综合征型学语前聋发生的常见原因。Objective： The study was to explore the relationship between miR-96 gene mutations and prelingual nonsyndromic hearing impairment（NSHI）.Methods： Blood samples were obtained from 125 patients with prelingual NSHI and 100 normal controls living in Hubei Province of China.Genomic DNA was extracted from the whole blood.PCR and direct sequencing were used to analyze the whole sequence of miR-96 gene.Results： No mutation in miR-96 gene was detected in 125 prelingual NSHI patients and normal controls.Conclusion： miR-96 mutation could not be the common cause of prelingual NSHI in Hubei Province.

关 键 词：语前聋 突变 miR-96基因 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]