Mitochondrial DNA mutation m.10680G > A is associated with Leber hereditary optic neuropathy in Chinese patients
文献类型：期刊论文
| 作者 | Zhang AM1; Jia XY2; Guo XM2; Zhang QJ[*]2; Yao YG[*]1 |
| 刊名 | JOURNAL OF TRANSLATIONAL MEDICINE
 |
| 出版日期 | 2012 |
| 卷号 | 10期号:X页码:e43 |
| 关键词 | LHON mtDNA m.10680G > A Chinese Rare primary mutation |
| 通讯作者 | qingjiongzhang@yahoo.com ; ygyaozh@gmail.com |
| 合作状况 | 其它 |
| 英文摘要 | Background: Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder with gender biased and incomplete penetrance. The majority of LHON patients are caused by one of the three primary mutations (m. 3460G > A, m. 11778G > A and m. 14484T > C). Rare pathogenic mutations have been occasionally reported in LHON patients. Methods: We screened mutation m.10680G > A in the MT-ND4L gene in 774 Chinese patients with clinical features of LHON but lacked the three primary mutations by using allele specific PCR (AS-PCR). Patients with m. 10680G > A were further determined entire mtDNA genome sequence. Results: The optimal AS-PCR could detect as low as 10% heteroplasmy of mutation m. 10680G > A. Two patients (Le1263 and Le1330) were identified to harbor m. 10680G > A. Analysis of the complete mtDNA sequences of the probands suggested that they belonged to haplogroups B4a1 and D6a1. There was no other potentially pathogenic mutation, except for a few private yet reported variants in the MT-ND1 and MT-ND5 genes, in the two lineages. A search in reported mtDNA genome data set (n = 9277; excluding Chinese LHON patients) identified no individual with m. 10680G > A. Frequency of m. 10680G > A in Chinese LHON patients analyzed in this study and our previous studies (3/784) was significantly higher than that of the general populations (0/9277) (P = 0.0005). Conclusion: Taken together, we speculated that m. 10680G > A may be a rare pathogenic mutation for LHON in Chinese. This mutation should be included in future clinical diagnosis. |
| 收录类别 | SCI |
| 资助信息 | This work was supported by the National Natural Science Foundation of China (30925021), Yunnan Province (2009CI119) and Guangdong Province (2009B091300150). |
| 语种 | 英语 |
| WOS记录号 | WOS:000305132000001 |
| 公开日期 | 2012-09-07 |
| 源URL | [http://159.226.149.42:8088/handle/152453/7058]  |
| 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 |
| 作者单位 | 1.Key Laboratory of Animal Models and Human Disease Mechanisms of Chinese Academy of Sciences & Yunnan 2.State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China |
| 推荐引用方式 GB/T 7714 | Zhang AM,Jia XY,Guo XM,et al. Mitochondrial DNA mutation m.10680G > A is associated with Leber hereditary optic neuropathy in Chinese patients[J]. JOURNAL OF TRANSLATIONAL MEDICINE,2012,10(X):e43. |
| APA | Zhang AM,Jia XY,Guo XM,Zhang QJ[*],&Yao YG[*].(2012).Mitochondrial DNA mutation m.10680G > A is associated with Leber hereditary optic neuropathy in Chinese patients.JOURNAL OF TRANSLATIONAL MEDICINE,10(X),e43. |
| MLA | Zhang AM,et al."Mitochondrial DNA mutation m.10680G > A is associated with Leber hereditary optic neuropathy in Chinese patients".JOURNAL OF TRANSLATIONAL MEDICINE 10.X(2012):e43. |
入库方式： OAI收割
来源：昆明动物研究所
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