Mitochondrial DNA haplogroup Y is associated to Leigh syndrome in Chinese population
文献类型：期刊论文
| 作者 | Hao XD1,2,5; Yang YL3; Zhang YP[*]1,4,5; Tang NLS5,6,7,8; Kong QP1,5; Wu SF1 |
| 刊名 | GENE
 |
| 出版日期 | 2013 |
| 卷号 | 512期号:2页码:460-463 |
| 关键词 | Leigh syndrome A10398G Chinese population Association study |
| 通讯作者 | zhangyp@mail.kiz.ac.cn |
| 合作状况 | 其它 |
| 英文摘要 | Although Leigh syndrome (LS) is a well characterized clinical mitochondrial disorder; the exact mutation is not found in all cases and it is not clear whether matrilineal background has contributed to this disease. To address this issue, we extensively studied and compared the haplogroup composition of a sample of 171 Chinese LS patients with that of 1597 controls. Our results show that haplogroup Y may increase the risk of LS in Chinese by 2.867 fold (95% CI = 1.135-7.240, P = 0.020). Haplogroup B5 has also this trend (1.737 fold, 95% CI = 0.961-3.139), but with a borderline P-value (P = 0.065). Both haplogroups belong to macrohaplogroup N and share a common reverse mutation on nudeotide position 10398 (A10398G). In fact, the combined haplogroup N with 10398G is also associated with an increased risk for LS (OR = 1.882, 95% CL = 1.134-3.124, P = 0.013). |
| 收录类别 | SCI |
| 资助信息 | This work was supported by the National Natural Science Foundation of China (NSFC) and The Bureau of Science and Technology of Yunnan Province. |
| 语种 | 英语 |
| 源URL | [http://159.226.149.26:8080/handle/152453/9278]  |
| 专题 | 昆明动物研究所_分子进化基因组学 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_分子人类学 |
| 作者单位 | 1.State Key Laboratory of Genetic Resources and Evolution and Yunnan Laboratory of Molecular Biology of Domestic Animals, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China 2.Graduate School of the Chinese Academy of Sciences, Beijing, China 3.Department of Pediatrics, Peking University First Hospital, Beijing, China 4.Laboratory for Conservation and Utilization of Bio-resource, Yunnan University, Kunming, China 5.KIZ/CUHK Joint Laboratory of Bioresources and Molecular Research in Common Diseases, Kunming, China 6.Department of Chemical Pathology, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong Special Administrative Region 7.Laboratory of Genetics of Disease Susceptibility, Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong Special Administrative Region 8.Functional Genomics and Biostatistical Computing Laboratory, CUHK Shenzhen Research Institute, Shenzhen, China |
| 推荐引用方式 GB/T 7714 | Hao XD,Yang YL,Zhang YP[*],et al. Mitochondrial DNA haplogroup Y is associated to Leigh syndrome in Chinese population[J]. GENE,2013,512(2):460-463. |
| APA | Hao XD,Yang YL,Zhang YP[*],Tang NLS,Kong QP,&Wu SF.(2013).Mitochondrial DNA haplogroup Y is associated to Leigh syndrome in Chinese population.GENE,512(2),460-463. |
| MLA | Hao XD,et al."Mitochondrial DNA haplogroup Y is associated to Leigh syndrome in Chinese population".GENE 512.2(2013):460-463. |
入库方式： OAI收割
来源：昆明动物研究所
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