摘要
目的在中国西北地区部分语前聋患者中进行GJB2基因突变检测和分子流行病学研究,以初步掌握GJB2基因在该地区语前聋患者中的分布。方法知情同意的前提下对274例聋哑学生进行临床资料的采集,抽取外周静脉血,血样经基因组DNA提取,进行GJB2基因的PCR扩增,PCR产物行双向直接测序,检测GJB2基因突变。结果274例聋哑学生均为非综合征型耳聋,语前聋。GJB2基因检测发现了10种序列改变方式,包括2种多态性改变(79G→A、341A→G)、7种文献中已有报道的致病突变(30delG、94C→T、109G→A、139G→A、176→191del16、235delC、299-300delAT)和一种新的序列改变方式(257C→G)。结论GJB2基因突变在中国西北部语前聋人中的比例很高,占10·95%,开展GJB2基因筛查工作对该地区聋病的早期诊断、遗传咨询具有重要的意义。
Objective To investigate the molecular epiderrfiology of GJB2 mutations as a causative effect of prelingual deafness in northwestern China. Methods The medical history of 274 deaf-mute students was collected. Blood samples were obtained from them with informed consent. GJB2 gene sequences of genomic DNAs were amplified by polymerase chain reaction （PCR） with a pair of primers, and bidirectional sequencing of PIER products was performed and analyzed with DNAStar Software. Results A total number of 274 deaf-mute students were diagnosed as non-syndromic hearing impairment, and profound prelingual deafness. Two kinds of polymorphism, seven pathologic mutations and one novel mutation were revealed in the GJB2 screenings of them, and 79G-~A and 341A--~G were polymorphism with high frequency. Conclmion GJB2 gene mutation is the causative gene in the prelingual deafness with a high incidence of 10. 95% in northwestern China. Based on the investigation, it is clear that screening of GJB2 gene mutation should play a significant role in early diag- nosis of deaf-mutism in this region.
出处
《解放军医学杂志》
CAS
CSCD
北大核心
2006年第4期303-305,共3页
Medical Journal of Chinese People's Liberation Army
基金
国家"863"面上项目(2004AA221080)
国家自然科学基金面上项目(30370782
30470956)
北京市重大科技项目(H020220020610)
全国优秀博士学位论文作者专项资金资助项目(200463)
关键词
基因
CJB2
语前聋
遗传筛查
genes, GJB2
prelingual deafness
genetic screening
