mtDNA mutation C1494T, haplogroup A, and hearing loss in Chinese
文献类型：期刊论文
| 作者 | Wang CY1,2,3; Kong QP1,2; Yao YG[*]1; Zhang YP1,2 |
| 刊名 | BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
 |
| 出版日期 | 2006 |
| 卷号 | 348期号:2页码:712-715 |
| 关键词 | C1494T mtDNA Aminoglycoside-induced and nonsyndromic hearing loss Haplogroup A Phylogeny Chinese |
| ISSN号 | 0006-291X |
| 通讯作者 | ygyaozh@yahoo.com, yaoy3@nhlbi.nih.gov |
| 合作状况 | 其它 |
| 英文摘要 | Mutation C1494T in mitochondrial 12S rRNA gene was recently reported in two large Chinese families with aminoglycoside-induced and nonsyndromic hearing loss (AINHL) and was claimed to be pathogenic. This mutation, however, was first reported in a sample from central China in our previous study that was aimed to reconstruct East Asian mtDNA phylogeny. All these three mtDNAs formed a subclade defined by mutation C1494T in mtDNA haplogroup A. It thus seems that mutation C1494T is a haplogroup A-associated mutation and this matrilineal background may contribute a high risk for the penetrance of mutation C1494T in Chinese with AINHL. To test this hypothesis, we first genotyped mutation C1494T in 553 unrelated individuals from three regional Chinese populations and performed an extensive search for published complete or near-complete mtDNA data sets (>3000 mtDNAs), we then screened the C1494T mutation in 111 mtDNAs with haplogroup A status that were identified from 1823 subjects across China. The search for published mtDNA data sets revealed no other mtDNA besides the above-mentioned three carrying mutation C1494T. None of the 553 randomly selected individuals and the 111 haplogroup A mtDNAs was found to bear this mutation. Therefore, our results suggest that C1494T is a very rare event. The mtDNA haplogroup A background in general is unlikely to play an active role in the penetrance of mutation C1494T in AINHL. |
| 收录类别 | SCI |
| 资助信息 | The work was supported by grants from the Natural Sci- ence Foundation of Yunnan Province, Natural Science Foundation of China (NSFC, No. 30021004), and the Chi- nese Academy of Sciences (KSCX2-SW-2010) to Y.P.Z. |
| 原文出处 | 2006348712.pdf |
| 语种 | 英语 |
| 公开日期 | 2010-08-24 |
| 源URL | [http://159.226.149.42:8088/handle/152453/4197]  |
| 专题 | 昆明动物研究所_分子进化基因组学 昆明动物研究所_分子人类学 昆明动物研究所_重大疾病机理的遗传学 昆明动物研究所_细胞与分子进化开放实验室 |
| 作者单位 | 1.Laboratory of Cellular and Molecular Evolution, and Molecular Biology of Domestic Animals, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China 2.Laboratory for Conservation and Utilization of Bio-resource, Yunnan University, Kunming 650091, China 3.Graduate University of the Chinese Academy of Sciences, Beijing 100039, China |
| 推荐引用方式 GB/T 7714 | Wang CY,Kong QP,Yao YG[*],et al. mtDNA mutation C1494T, haplogroup A, and hearing loss in Chinese[J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS,2006,348(2):712-715. |
| APA | Wang CY,Kong QP,Yao YG[*],&Zhang YP.(2006).mtDNA mutation C1494T, haplogroup A, and hearing loss in Chinese.BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS,348(2),712-715. |
| MLA | Wang CY,et al."mtDNA mutation C1494T, haplogroup A, and hearing loss in Chinese".BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 348.2(2006):712-715. |
入库方式： OAI收割
来源：昆明动物研究所
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