摘要
目的对非综合征型耳聋患者家系进行最常见致病GJB2基因和线粒体DNA12SrRNA基因1555A〉G突变分析，寻找非综合征型耳聋家系致聋的遗传学病因。方法对16个耳聋家系进行病因问卷调查、纯音测听检查，用测序法对17例非综合征型感音神经性耳聋患者及其父母进行GJB2基因和线粒体DNA12SrRNA1555A〉G突变的检测。结果在17例感音神经性耳聋患者中，检出GJB2235delC纯合突变3例，235delC杂合突变1例，235delC＋299—300delAT双杂合突变1例，79G〉A＋341G〉A双杂合突变6例。未发现线粒体DNA12SrRNA1555A〉G位点突变。结论江苏地区线粒体DNA12Sr尺NA1555A〉G位点突变的发生率可能比较低。GJB2基因235delC突变、299300delAT、79G〉A＋341G〉A双杂合突变检出率为64．7％（11／17），因此对GJB2基因突变的筛查可以明确或提示部分非综合征型耳聋的病因。
Objective To screen for genetic mutations in families featuring non-syndromic hearing loss. Methods Sixteen families with non-syndromic hearing loss were interviewed to identify medical histories by a questionnaire. Audiological and neurological examinations were conducted for all families. Coding regions of GJB2 and 12S rRNA genes were amplified and sequenced. Results Of the 17 patients with sensorineural hearing loss, 3 were homozygous mutation for GJB2 235 delC, 1 was 235 delC heterozygous mutation, 1 was 235 delC＋299-300 delAT compound heterozygous mutation, and 6 were 79 G〉A＋341G：〉A heterozygosis in cis mutation. No 1555AG mutation of mitochondrial DNA （mtDNA） was found in the 16 families. Conclusion The incidence of mtDNA 12S rRNA 1555A〉 G mutation in Jiangsu province may be lower than the average across China. Mutations of GJB2 genes may account for as much as 64. 7% of non-syndromic hearing loss in this study. Screening for such mutations and genetic counseling may play an important role in the prevention of hereditary hearing loss.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2012年第4期388-392,共5页
Chinese Journal of Medical Genetics
基金
江苏省卫生厅项目（苏卫科教Z201011）
南京医科大学科技发展基金面上项目（9NJMUM139）通信作者：李红,Email：hongli688@gmail.com
