16个非综合征性听力损失家系的GJB2基因及线粒体DNA A1555G突变分析
[Analysis of GJB2 gene and mitochondrial DNA A1555G mutations in 16 families with non-syndromic hearing loss].
作者信息
Wang Wei, Cheng Hong-bo, Yang Nian, Shi Yi-chao, Liu Jin-zhi, Li Qin, Yang Shen-min, Shen Li-yan, Liu Min-juan, Chen Ying, Li Hong
机构信息
Nanjing Medical University, Suzhou, Jiangsu, People's Republic of China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Aug;29(4):388-92. doi: 10.3760/cma.j.issn.1003-9406.2012.04.003.
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 79G>A+341G>A heterozygosis in cis mutation. No 1555A>G 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.
目的
筛查非综合征性听力损失家庭中的基因突变。
方法
通过问卷调查对16个非综合征性听力损失家庭进行访谈以确定病史。对所有家庭进行听力学和神经学检查。扩增并测序GJB2和12S rRNA基因的编码区。
结果
在17例感音神经性听力损失患者中，3例为GJB2 235 delC纯合突变，1例为235 delC杂合突变，1例为235 delC + 299_300 delAT复合杂合突变，6例为79G>A + 341G>A顺式杂合突变。在这16个家庭中未发现线粒体DNA（mtDNA）的1555A>G突变。
结论
江苏省mtDNA 12S rRNA 1555A>G突变的发生率可能低于全国平均水平。本研究中，GJB2基因突变可能占非综合征性听力损失的64.7%。筛查此类突变和遗传咨询可能在遗传性听力损失的预防中发挥重要作用。
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