Mitochondrial dna haplogroups m7b1 ' 2 and m8a affect clinical expression of leber hereditary optic neuropathy in chinese families with the m.11778g -> a mutation
文献类型：期刊论文
| 作者 | Ji, Yanli2; Zhang, A-Mei1,4; Jia, Xiaoyun2; Zhang, Ya-Ping3; Xiao, Xueshan2; Li, Shiqiang2; Guo, Xiangming2; Bandelt, Hans-Juergen5; Zhang, Qingjiong2; Yao, Yong-Gang1 |
| 刊名 | American journal of human genetics
 |
| 出版日期 | 2008-12-12 |
| 卷号 | 83期号:6页码:760-768 |
| ISSN号 | 0002-9297 |
| DOI | 10.1016/j.ajhg.2008.11.002 |
| 通讯作者 | Yao, yong-gang(ygyaozh@gmail.com) |
| 英文摘要 | Leber hereditary optic neuropathy (lhon) is the most extensively studied mitochondrial disease, with the majority of the cases being caused by one of three primary mitochondrial dna (mtdna) mutations. incomplete disease penetrance and gender bias are two features of lhon and indicate involvement of additional genetic or environmental factors in the pathogenesis of the disorder. haplogroups j, k, and h have been shown to influence the clinical expression of lhon in subjects harboring primary mutations in european families. however, whether mtdna haplogroups would affect the penetrance of lhon in east asian families has not been evaluated yet. by studying the penetrance of lhon in 1859 individuals from 182 chinese families (including one from cambodia) with the m.11778g -> a mutation, we found that haplogroup m7b1'2 significantly increases the risk of visual loss, whereas m8a has a protective effect. analyses of the complete mtdna sequences from lhon families with m.11778g -> a narrow the association of disease expression to m.12811t -> c (y159h) in the nadh dehydrogenase 5 gene (mt-nd5) in haplogroup m7b1'2 and suggest that the specific combination of amino acid changes (a20t-t531) in the atp synthase 6 protein (mt-atp6) caused by m.8584g -> a and m.8684c -> t might account for the beneficial background effect of m8a. protein secondary-structure prediction for the mt-atp6 with the two m8a-specific amino acid changes further supported our inferences. these findings will assist in further understanding the pathogenesis of lhon and guide future genetic counseling in east asian patients with m.11778g -> a. |
| WOS关键词 | CYTOCHROME-C-OXIDASE ; G11778A MUTATION ; SEQUENCE-ANALYSIS ; PENETRANCE ; LHON ; DISEASE ; EAST ; NEURORETINOPATHY ; EPIDEMIOLOGY ; HAPLOTYPE |
| WOS研究方向 | Genetics & Heredity |
| WOS类目 | Genetics & Heredity |
| 语种 | 英语 |
| WOS记录号 | WOS:000261822100011 |
| 出版者 | CELL PRESS |
| URI标识 | http://www.irgrid.ac.cn/handle/1471x/2387801 |
| 专题 | 中国科学院大学 |
| 通讯作者 | Yao, Yong-Gang |
| 作者单位 | 1.Chinese Acad Sci, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming 650223, Peoples R China 2.Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangzhou 510060, Guangdong, Peoples R China 3.Chinese Acad Sci, Kunming Inst Zool, State Key Lab Genet Resources & Evolut, Kunming 650223, Peoples R China 4.Chinese Acad Sci, Grad Sch, Beijing 100039, Peoples R China 5.Univ Hamburg, Dept Math, D-20146 Hamburg, Germany |
| 推荐引用方式 GB/T 7714 | Ji, Yanli,Zhang, A-Mei,Jia, Xiaoyun,et al. Mitochondrial dna haplogroups m7b1 ' 2 and m8a affect clinical expression of leber hereditary optic neuropathy in chinese families with the m.11778g -> a mutation[J]. American journal of human genetics,2008,83(6):760-768. |
| APA | Ji, Yanli.,Zhang, A-Mei.,Jia, Xiaoyun.,Zhang, Ya-Ping.,Xiao, Xueshan.,...&Yao, Yong-Gang.(2008).Mitochondrial dna haplogroups m7b1 ' 2 and m8a affect clinical expression of leber hereditary optic neuropathy in chinese families with the m.11778g -> a mutation.American journal of human genetics,83(6),760-768. |
| MLA | Ji, Yanli,et al."Mitochondrial dna haplogroups m7b1 ' 2 and m8a affect clinical expression of leber hereditary optic neuropathy in chinese families with the m.11778g -> a mutation".American journal of human genetics 83.6(2008):760-768. |
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来源：中国科学院大学
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