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  2. 昆明动物研究所
  3. 昆明动物研究所
  4. 动物模型与人类重大疾病机理重点实验室
  5. 重大疾病机理的遗传学
The MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with clinical features of LHON but lacking the three primary mutations

文献类型：期刊论文

作者Zou Y1,4; Jia XY2; Zhang AM1,4; Wang WZ3,4; Li SQ2; Guo XM2; Kong QP3; Zhang QJ[*]2; Yao YG[*]1
刊名BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
出版日期2010
卷号399期号:2页码:179-185
关键词LHON MT-ND1 Mutational hotspot Penetrance Chinese
通讯作者qingjiongzhang@yahoo.com ; ygyaozh@gmail.com
合作状况其它
英文摘要LHON is one of the most common and primary causes of acute blindness in young male adults. Over 95% of LHON cases are caused by one of the three primary mutations (m.11778G>A, m.14484T>C, and m.3460G>A). In contrast to these genetically diagnosed LHON patients, there are many patients with clinical features of LHON but without the three primary mutations, and these patients have been insufficiently analyzed. We reported 10 suspected Chinese LHON families without the three primary mutations. The overall penetrance (53.4%) in these families is significantly higher than in those families with m.11778G>A (33.3%) or m.3460G>A (25.6%). Complete mtDNA genome sequencing of the 10 families showed that they belonged to different haplogroups and all identified variants (excluding m.12332A>G in mt-tRNA(Leu)) were previously reported. Eight of 12 private non-synonymous variants in the probands are located in the MT-ND1 and MT-ND5 genes, which is substantially higher than that of individuals from general Chinese populations. Comparison of the private variants in the 10 families and in 10 randomly selected mtDNAs from general Chinese populations using resampling simulation strategy further confirmed this pattern. Our results suggest that the MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with suspected LHON lacking the common primary mutations. Variants m.3736G>A (p.V144I) in family Le1235 and m.10680G>A (p.A71T) in Le1107 can be the pathogenic mutations for LHON.
收录类别SCI
资助信息This study was supported by the National Natural Science Foundation of China (30925021), Yunnan Province (2009CI119), Guangdong Province (2009B091300150), and the Chinese Academy of Sciences.
语种英语
公开日期2010-10-28
源URL[http://159.226.149.42:8088/handle/152453/6337]  
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_分子人类学
昆明动物研究所_生命条形码中心
作者单位1.Key Laboratory of Animal Models and Human Disease Mechanisms of the 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 Resources 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		 Zou Y,Jia XY,Zhang AM,et al. The MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with clinical features of LHON but lacking the three primary mutations[J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS,2010,399(2):179-185.
APA Zou Y.,Jia XY.,Zhang AM.,Wang WZ.,Li SQ.,...&Yao YG[*].(2010).The MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with clinical features of LHON but lacking the three primary mutations.BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS,399(2),179-185.
MLA Zou Y,et al."The MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with clinical features of LHON but lacking the three primary mutations".BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 399.2(2010):179-185.

入库方式： OAI收割

来源：昆明动物研究所

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