Genetic mutations in non-syndromic deafness patients of Uyghur and Han Chinese ethnicities in Xinjiang, China: a comparative study.
Genetic mutations in non-syndromic deafness patients of Uyghur and Han Chinese ethnicities in Xinjiang, China: a comparative study.
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DOI：
10.1186/1479-5876-9-154
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发表时间：
2011-09-14
影响因子：
7.4
通讯作者：
Zhang H
中科院分区：
文献类型：
--
作者：
Chen Y;Tudi M;Sun J;He C;Lu HL;Shang Q;Jiang D;Kuyaxi P;Hu B;Zhang H
与耳聋相关的基因突变谱在不同地区和种族之间差异很大。由于一千多年来的多民族联合，维吾尔族非综合征性耳聋(NSD)患者与汉族聋人相比可能表现出独特的耳聋相关基因突变谱。为了解维吾尔族NSD患者4个耳聋相关基因的9个基因座的分布特点，并与中国汉族聋人进行比较，共纳入350例NSD患者，其中维吾尔族199例，汉族151例。病史采集后，采集血样进行DNA提取。对35delG、176-191del16、235delC、299-300delAT、538C>；T、1555A>；G、1494C>；T、2168A>；G和IVS7-2A>；G四个耳聋相关基因的9个基因座进行DNA微阵列分析。在维吾尔族和汉族NSD患者中，分别有13.06%和32.45%的患者检测到9个耳聋相关基因的突变(P<；0.05)。维吾尔族和汉族GJB2基因突变率分别为9.05%和16.56%(P&gT；0.05)。235delC是两族NSD患者的突变热点，而35delG是维吾尔族NSD患者的突变热点。187delG突变是首次在维吾尔族NSD患者中发现的，被认为是未见报道的GJB2的病理变异。维吾尔族和汉族SLC26A4基因突变频率分别为2.01%和14.57%(P<；0.05)。维吾尔族和汉族患者线粒体DNA 12S rRNA突变率分别为2.01%和2.65%(P>；0.05)。NSD患者的GJB3突变频率较低，与种族无关。在所研究的9个基因座上，维吾尔族NSD患者中普遍存在的耳聋相关基因突变的频率低于汉族患者。GJB2是两个种族中最常见的突变基因，而两个种族在热点突变上存在很大差异。在维吾尔族NSD患者中检测到SLC26A4低频率突变。维吾尔族NSD患者与汉族NSD患者在基因突变谱上存在显著差异。
The deafness-associated gene mutation profile varies greatly among regions and races. Due to the multi-ethnic coalition of over one thousand years, non-syndromic deafness (NSD) patients of Uyghur ethnicity may exhibit a unique deafness-associated gene mutation spectrum as compared to Han Chinese deaf population. In order to characterize nine loci of four deafness-associated genes of Uyghur NSD patients in comparison with Chinese Han deaf population, NSD patients (n = 350) were enrolled, including Uyghur (n = 199) and Han Chinese (n = 151). Following the history taking, blood samples were collected for DNA extraction. DNA microarray was performed on nine loci of four deafness-associated genes, including 35delG, 176-191del16, 235delC, 299-300delAT, 538C > T, 1555A > G, 1494C > T, 2168A > G, and IVS7-2A > G. The samples that showed the absence of both wild and mutant probe signals were tested for further DNA sequencing analysis. The mutations in the nine loci of prevalent deafness-associated genes were detected in 13.06% of Uyghur NSD patients and 32.45% of Han Chinese patients (P < 0.05), respectively. GJB2 mutation was detected in 9.05% of Uyghur patients and 16.56% of Han Chinese patients (P > 0.05), respectively. 235delC was the hotspot mutation region in NSD patients of the two ethnicities, whereas 35delG was the mutation hotspot in Uyghur patients. 187delG mutation was detected for the first time in Uyghur NSD patients and considered as an unreported pathological variant of GJB2. SLC26A4 mutation was found in 2.01% of Uyghur patients and 14.57% of Han Chinese patients (P < 0.05), respectively. The frequencies of mtDNA 12S rRNA mutation in Uyghur and Han Chinese patients were 2.01% and 2.65% (P > 0.05), respectively. The NSD patients exhibited a low frequency of GJB3 mutation regardless of ethnicity. Prevalent deafness-associated gene mutations in the nine loci studied were less frequently detected in Uyghur NSD patients than in Han Chinese patients. GJB2 was the most common mutant gene in the two ethnicities, whilst the two ethnicities differed substantially in hotspot mutations. A low-frequency SLC26A4 mutation was detected in Uyghur NSD patients. Uyghur NSD patients differed significantly from Han Chinese patients in gene mutation profile.
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影响因子：
30.8
作者：
PREZANT, TR;AGAPIAN, JV;FISCHELGHODSIAN, N
通讯作者：
FISCHELGHODSIAN, N
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.
影响因子：
3.5
作者：
Liu, XZ;Xia, XJ;Nance, WE
通讯作者：
Nance, WE
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
影响因子：
5.3
作者：
Li, ZY;Li, RH;Guan, MX
通讯作者：
Guan, MX