Molecular characterization of six Chinese families with m.3460G > A and Leber hereditary optic neuropathy
文献类型：期刊论文
| 作者 | Yu DD1; Jia XY2; Zhang AM1,4; Guo XM2; Zhang YP3; Zhang QJ[*]2; Yao YG[*]1 |
| 刊名 | NEUROGENETICS
 |
| 出版日期 | 2010 |
| 卷号 | 11期号:3页码:349-356 |
| 关键词 | LHON m.3460G > A Chinese Phylogenetic analysis Multiple origins |
| ISSN号 | 1364-6745 |
| 通讯作者 | qingjiongzhang@yahoo.com ; yaoyg@mail.kiz.ac.cn |
| 英文摘要 | The primary mutation m.3460G > A occurs with a very low frequency (similar to 1%) in Chinese patients with Leber hereditary optic neuropathy (LHON). Up to now, there is no comprehensive study of Chinese patients harboring this mutation. We characterized six unrelated probands with m.3460G > A in this study, which were identified from 1,626 patients with LHON or suspected with LHON. The overall penetrance of LHON (25.6% [10/39]) in four pedigrees with m.3460G > A was substantially lower than those families with m.11778G > A (33.3% [619/1859]) as reported in our previous study. Intriguingly, family Le688 with a heteroplasmic m.3460G > A presented a lower penetrance (12.5%) than the other three families with a homoplasmic mutation. There is an elevated gender bias (affected male to affected female = 4:1) in the four families with m.3460G > A compared to those LHON families with m.11778G > A (2.4:1). Complete mtDNA sequencing indicated that the six matrilines belonged to haplogroups B4d1, F2, A5b, M12a, D4b2b, and D4b2, respectively. We did not identify any potential secondary mutation(s) that will affect or be associated with the penetrance of LHON in the six probands by using an evolutionary analysis and protein secondary-structure prediction. Taken together, our results suggested that the m.3460G > A mutation occurred multiple times in Chinese LHON patients. The heteroplasmic status of mutation m.3460G > A might influence the penetrance of LHON in family Le688. |
| 收录类别 | 其他 |
| 资助信息 | This study was supported by Yunnan Province (云南省高 端人才计划2009CI119), Guangdong Province (广东省中国科学院全 面战略合作项目2009B091300150), Chinese Academy of Sciences, and the National Science Fund for Distinguished Young Scholars (30925021). |
| 语种 | 英语 |
| 公开日期 | 2010-08-24 |
| 源URL | [http://159.226.149.42:8088/handle/152453/6033]  |
| 专题 | 昆明动物研究所_重大疾病机理的遗传学 昆明动物研究所_动物模型与人类重大疾病机理重点实验室 昆明动物研究所_遗传资源与进化国家重点实验室 昆明动物研究所_分子进化基因组学 |
| 作者单位 | 1.Key Laboratory of Animal Models and Human Disease Mechanisms of Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan 650223, China 2.State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China 3.State Key Laboratory of Genetic Resource and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China 4.Graduate School of the Chinese Academy of Sciences, Beijing 100039, China |
| 推荐引用方式 GB/T 7714 | Yu DD,Jia XY,Zhang AM,et al. Molecular characterization of six Chinese families with m.3460G > A and Leber hereditary optic neuropathy[J]. NEUROGENETICS,2010,11(3):349-356. |
| APA | Yu DD.,Jia XY.,Zhang AM.,Guo XM.,Zhang YP.,...&Yao YG[*].(2010).Molecular characterization of six Chinese families with m.3460G > A and Leber hereditary optic neuropathy.NEUROGENETICS,11(3),349-356. |
| MLA | Yu DD,et al."Molecular characterization of six Chinese families with m.3460G > A and Leber hereditary optic neuropathy".NEUROGENETICS 11.3(2010):349-356. |
入库方式： OAI收割
来源：昆明动物研究所
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