Developing regional genetic counseling for southern Chinese with nonsyndromic hearing impairment: a unique mutational spectrum.
Developing regional genetic counseling for southern Chinese with nonsyndromic hearing impairment: a unique mutational spectrum.
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为中国南方非综合征性听力障碍开展区域遗传咨询：独特的突变谱
DOI：
10.1186/1479-5876-12-64
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发表时间：
2014-03-11
影响因子：
7.4
通讯作者：
Jiang H
中科院分区：
文献类型：
--
作者：
Chen K;Zong L;Liu M;Wang X;Zhou W;Zhan Y;Cao H;Dong C;Tang H;Jiang H
研究背景种族和地区因素对非综合征性听力损害的临床诊断具有重要意义。因此，必须对我国不同地区的耳聋患者进行全面的遗传学分析，以提供有效的遗传咨询。为了评估突变谱的中国南方的家庭，我们进行了遗传分析，为非综合征性听力障碍，在这个population.MethodsComplete临床评估701例无关的非综合征性听力障碍患者在中国南方6个省进行。对每例受试者进行SLC26A4c.IVS7 -2A > G、c.2168A > G、线粒体DNA m.1555A > G、m.1494C > T、m.7444G > A、m.7445A> G、GJB 3c.538C> T、c.547G > A、c.547G > T、c.547G > G、c.547G、c.547结果在非综合征性耳聋的病因学中，GJB 2、SLC 26 A4、GJB 1c、WFS 1c、1901 A> C、GJB 1c、SLC 26 A4、WFS 1c、1901 A> C、GJB 2、SLC 26 A4、WFS 1c、WFS 1901 A> C、WFS 1c、WFS线粒体m.1555A > G突变分别占18.0%、13.1%和0.9%。常见突变包括GJB 2c.235delC、c.109G > A、SLC26A4c.IVS7 -2A > G、c.1229T> C和线粒体m.1555A > G。在华南地区所有受检患者中，总突变率为45.1%。总体而言，GJB 2、SLC 26 A4和线粒体m.1555A > G基因对中国南方非综合征型耳聋人群病因的明确贡献率为32.0%。结论本研究首次对中国南方非综合征型耳聋进行了遗传学分析，并揭示了明确的遗传病因占中国南方非综合征型耳聋患者的32.0%。中国南方人群非综合征性听力障碍的突变谱为遗传咨询提供了有用的和有针对性的信息。
BackgroundRacial and regional factors are important for the clinical diagnosis of non-syndromic hearing impairment. Comprehensive genetic analysis of deaf patients in different regions of China must be performed to provide effective genetic counseling. To evaluate the mutational spectrum of south Chinese families, we performed genetic analysis for non-syndromic hearing impairment in this population.MethodsComplete clinical evaluations were performed on 701 unrelated patients with non-syndromic hearing impairment from six provinces in south China. Each subject was screened for common mutations, includingSLC26A4c.IVS7-2A > G, c.2168A > G; mitochondrial DNA m.1555A > G, m.1494C > T, m.7444G > A, m.7445A > G;GJB3c.538C > T, c.547G > A; andWFS1c.1901A > C, using pyrosequencing.GJB2andSLC26A4coding region mutation detection were performed using Sanger sequencing.ResultsGenetic analysis revealed that among the etiology of non-syndromic hearing impairment,GJB2,SLC26A4, and mitochondrial m.1555A > G mutations accounted for 18.0%, 13.1%, and 0.9%, respectively. Common mutations includedGJB2c.235delC, c.109G > A,SLC26A4c.IVS7-2A > G, c.1229 T > C, and mitochondrial m.1555A > G. The total mutation rate was 45.1% in all patients examined in south China. Overall, the clear contribution ofGJB2,SLC26A4, and mitochondrial m.1555A > G to the etiology of the non-syndromic deafness population in south China was 32.0%.ConclusionsOur study is the first genetic analysis of non-syndromic hearing impairment in south China, and revealed that a clear genetic etiology accounted for 32.0% of non-syndromic hearing cases in patients from these regions. The mutational spectrum of non-syndromic hearing impairment in the south Chinese population provides useful and targeted information to aid in genetic counseling.
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影响因子：
7.4
作者：
Chen Y;Tudi M;Sun J;He C;Lu HL;Shang Q;Jiang D;Kuyaxi P;Hu B;Zhang H
通讯作者：
Zhang H
由间隙连接蛋白 Cx26 和 Cx31 突变引起的非综合征性耳聋的双基因遗传。
影响因子：
5.3
作者：
Liu XZ;Yuan Y;Yan D;Ding EH;Ouyang XM;Fei Y;Tang W;Yuan H;Chang Q;Du LL;Zhang X;Wang G;Ahmad S;Kang DY;Lin X;Dai P
通讯作者：
Dai P
影响因子：
3.5
作者：
Park, HJ;Lee, SJ;Koo, SK
通讯作者：
Koo, SK
2063例中国非综合征性听力障碍患者GJB2突变谱
影响因子：
7.4
作者：
Dai P;Yu F;Han B;Liu X;Wang G;Li Q;Yuan Y;Liu X;Huang D;Kang D;Zhang X;Yuan H;Yao K;Hao J;He J;He Y;Wang Y;Ye Q;Yu Y;Lin H;Liu L;Deng W;Zhu X;You Y;Cui J;Hou N;Xu X;Zhang J;Tang L;Song R;Lin Y;Sun S;Zhang R;Wu H;Ma Y;Zhu S;Wu BL;Han D;Wong LJ
通讯作者：
Wong LJ
中国北方受试者语前耳聋的 GJB2、SLC26A4 和线粒体 DNA A1555G 突变
影响因子：
1.4
作者：
Guo, Yu-Fen;Liu, Xiao-Wen;Wang, Qiu-Ju
通讯作者：
Wang, Qiu-Ju