| mtDNA haplogroup distribution in Chinese patients with Leber's hereditary optic neuropathy and G11778A mutation | |
| Ji YL1; Jia XY1; Zhang QJ[*]1; Yao YG2; qingjiongzhang@yahoo.com | |
| 2007 | |
| 发表期刊 | BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
 |
| ISSN | 0006-291X |
| 卷号 | 364期号:2页码:238-242 |
| 合作性质 | 其它 |
| 摘要 | Mitochondrial DNA background has been shown to be involved in the penetrance of Leber's hereditary optic neuropathy (LHON) in western Eurasian populations. To analyze mtDNA haplogroup distribution pattern in Han Chinese patients with LHON and G11778A mutation, we analyzed the mtDNA haplogroups of 41 probands with LHON known to harbor G11778A mutation by sequencing the mtDNA control region hypervariable segments and some coding region polymorphisms. Each mtDNA was classified according to the available East Asian haplogroup system. The haplogroup, distribution pattern of LHON sample was then compared to the reported Han Chinese samples. Haplogroups M7, D, B, and A were detected in 11 (26.8%), 10 (24.4%), 8 (19.5%), and 5 (12.2%) LHON families, respectively, and accounted for 82.9% of the total samples examined. For the remaining seven mtDNAs, six belonged to M8a, M10a, C, N9a, F1a, and R11, respectively, and one could only be assigned into macro-haplogroup M. The LHON sample was distinguished from other Han Chinese samples in the principal component map based on haplogroup distribution frequency. Our results show that matrilineal genetic components of Chinese LHON patients with G11778A are diverse and differ from related Han Chinese regional samples. mtDNA background might affect the expression of LHON and the G11778A mutation in Chinese population. |
| 关键词 | Lhon Mtdna Haplogroup G11778a Chinese |
| 资助者 | This study was supported in part by 863 Plan of China (Z19-01-04-02). ; This study was supported in part by 863 Plan of China (Z19-01-04-02). ; This study was supported in part by 863 Plan of China (Z19-01-04-02). ; This study was supported in part by 863 Plan of China (Z19-01-04-02). |
| URL | 查看原文 |
| 收录类别 | SCI |
| 资助者 | This study was supported in part by 863 Plan of China (Z19-01-04-02). ; This study was supported in part by 863 Plan of China (Z19-01-04-02). ; This study was supported in part by 863 Plan of China (Z19-01-04-02). ; This study was supported in part by 863 Plan of China (Z19-01-04-02). |
| 文献类型 | 期刊论文 |
| 条目标识符 | http://ir.kiz.ac.cn/handle/152453/5997 |
| 专题 | 科研部门_疾病机理遗传学和进化医学学科组（姚永刚） 科研部门_动物模型与人类重大疾病机理重点实验室 |
| 通讯作者 | qingjiongzhang@yahoo.com |
| 作者单位 | 1.State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China 2.Key Laboratory of Animal Models and Human Disease Mechanisms, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, Yunnan, China |
| 推荐引用方式 GB/T 7714 | Ji YL,Jia XY,Zhang QJ[*],et al. mtDNA haplogroup distribution in Chinese patients with Leber's hereditary optic neuropathy and G11778A mutation[J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS,2007,364(2):238-242. |
| APA | Ji YL,Jia XY,Zhang QJ[*],Yao YG,&qingjiongzhang@yahoo.com.(2007).mtDNA haplogroup distribution in Chinese patients with Leber's hereditary optic neuropathy and G11778A mutation.BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS,364(2),238-242. |
| MLA | Ji YL,et al."mtDNA haplogroup distribution in Chinese patients with Leber's hereditary optic neuropathy and G11778A mutation".BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 364.2(2007):238-242. |
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| 2007364238.pdf（133KB） | 期刊论文 | 出版稿 | 开放获取 | CC BY-NC-SA | 请求全文 | |
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