GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment.
GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment.
复制标题
2063例中国非综合征性听力障碍患者GJB2突变谱
DOI：
10.1186/1479-5876-7-26
复制
发表时间：
2009-04-14
影响因子：
7.4
通讯作者：
Wong LJ
中科院分区：
文献类型：
--
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
背景：GJB2基因突变是常染色体隐性遗传性非综合征耳聋(NSHI)最常见的分子缺陷。方法：对2063例无血缘关系的NSHI患者的GJB2基因编码区进行了PCR扩增和测序，以了解GJB2基因在中国人群中的突变谱和频率。其中5个为新种(p.W3X、C.99delT、C.155_C.158delTCTG、C.512_C.513insAACG和p.Y152X)。307名患者携带两个确诊的致病突变，其中包括178个纯合子和129个复合杂合子。125名患者只携带一个突变等位基因。因此，在2063例NSHI患者中，GJB2突变占突变等位基因的17.9%。总体而言，92.6%(684/739)的致病突变是移码截断或无义突变。其中c.235delC、c.299_c.300delAT、c.176_c.191del16和c.35delG四种常见突变占全部突变等位基因的88.0%。中国不同地区GJB2突变(等位基因)的频率从4%到30.4%不等。结论：在中国地区，对三种最常见的突变进行检测，可以在所有患者中发现至少一个突变等位基因。在西藏等其他地区，这三种最常见的突变只占GJB2突变等位基因的16%。因此，在这一区域，建议对GJB2进行测序。此外，中国人群中80%以上的NSHI突变等位基因的病因学尚未确定。对其他NSHI相关基因的分析将是必要的。
Background:Mutations in GJB2 are the most common molecular defects responsible for autosomal recessive nonsyndromic hearing impairment (NSHI). The mutation spectra of this gene vary among different ethnic groups.Methods:In order to understand the spectrum and frequency of GJB2 mutations in the Chinese population, the coding region of the GJB2 gene from 2063 unrelated patients with NSHI was PCR amplified and sequenced.Results:A total of 23 pathogenic mutations were identified. Among them, five (p.W3X, c.99delT, c.155_c.158delTCTG, c.512_c.513insAACG, and p.Y152X) are novel. Three hundred and seven patients carry two confirmed pathogenic mutations, including 178 homozygotes and 129 compound heterozygotes. One hundred twenty five patients carry only one mutant allele. Thus, GJB2 mutations account for 17.9% of the mutant alleles in 2063 NSHI patients. Overall, 92.6% (684/739) of the pathogenic mutations are frame-shift truncation or nonsense mutations. The four prevalent mutations; c.235delC, c.299_c.300delAT, c.176_c.191del16, and c.35delG, account for 88.0% of all mutantalleles identified. The frequency of GJB2 mutations (alleles) varies from 4% to 30.4% among different regions of China. It also varies among different sub-ethnic groups.Conclusion:In some regions of China, testing of the three most common mutations can identify at least one GJB2 mutant allele in all patients. In other regions such as Tibet, the three most common mutations account for only 16% the GJB2 mutant alleles. Thus, in this region, sequencing of GJB2 would be recommended. In addition, the etiology of more than 80% of the mutant alleles for NSHI in China remains to be identified. Analysis of other NSHI related genes will be necessary.
登录
查看更多内容
内蒙古听力障碍的分子病因学：SLC26A4基因突变及相关表型分析。
影响因子：
7.4
作者：
Dai, Pu;Yuan, Yongyi;Wong, Lee-Jun C.
通讯作者：
Wong, Lee-Jun C.
DOI：
10.1016/0165-5876(95)01183-c
发表时间：
1995-07-01
影响因子：
1.5
作者：
DOWNS, MP
通讯作者：
DOWNS, MP
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：
8.8
作者：
Dai, Pu;Yu, Fei;Wong, Lee-Jun
通讯作者：
Wong, Lee-Jun
影响因子：
8.8
作者：
Dai, Pu;Li, Qi;Wu, Bai-Lin
通讯作者：
Wu, Bai-Lin