摘要
目的通过对柳州地区161例先天性聋患者常见耳聋易感基因突变的检测,探讨该地区先天性聋患者耳聋易感基因突变的检出情况。方法收集新生儿听力筛查未通过和门诊散发的经听力学诊断确诊为先天性聋的患者161例,采集静脉血样,提取DNA,经PCR扩增,采用限制酶切和直接测序技术对GJB2、线粒体DNA12SrRNA A1555G和SLC26A4(PDS)三种耳聋易感基因突变热点进行检测。结果161例患者中1例(0.62%)为线粒体DNA1555G突变,2例(1.24%)为GJB2235delC纯合突变,1例为235delC杂合突变,1例为299～300delAT杂合突变,GJB2总体突变携带率为2.48%;SLC26A4基因IVS7-2A>G杂合突变10例(6.21%)。总体分子水平上能明确诊断或提示遗传性聋者占9.31%。结论柳州市本组先天性耳聋患者中,三种常见耳聋易感基因突变频率较低,未知的遗传或环境因素在该地区耳聋的发病中可能起重要的作用。
Objective To investigate the epidemiological characteristics of three common susceptive gene related hearing loss in the patients with the congenital deafness in Liuzhou.Methods 161 patients with congenital hearing loss were diagnosed with audiologic evolutions,including newborns and outpatients. The blood samples of all patients were taken for the extraction of DNA which was amplified by PCR. The common mutational hot spots of the mitochondrial DNA 12SrRNA,GJB2 and SLC26A4 were examined by restricted enzyme and directed sequencing. Results 1 case（0.62%） was found to carry mitochondrial DNA 12SrRNA A1555G and 4 patients（2.48%） carried heterozygotes or homozygotes pathologic mutations of GJB2. 10 patients（6.21%） were heterozygous carriers with pathologic mutations,IVS7-2 AG,in the SLC26A4 gene. The detection rate of GJB2,mitochondrial DNA A1555G and SLC26A4 mutations in 161 patients were 9.31%.Conclusion The patients with congenital hearing loss distributed different minority groups in liuzhou zone. The mutational frequencies of the three common gene related hearing loss in the patients of Liuzhou were noticeably lower than the data reported in other regions in China. The gene screening for deafness was very important for early diagnosis and treatment.
出处
《听力学及言语疾病杂志》
CAS
CSCD
北大核心
2010年第1期11-13,共3页
Journal of Audiology and Speech Pathology
基金
国家863项目(2006AA02Z181)
国家自然基金重点项目(30830104)
国家自然基金面上项目(30572016
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)
北京市科技计划重大项目(D0906005040291)
国家973项目(2007CB507400)
北京市重大专项课题项目(7070002)
国家"十一五"科技支撑计划(2006BAI02B06&2007BAI18B12)
柳州市科技攻关基金(2008031403)资助
关键词
先天性
聋
基因突变
流行病学
Congenital
Hearing loss
Gene mutation
Epidemiology
