The MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with clinical features of LHON but lacking the three primary mutations

KIZ OpenIR > 科研部门 > 疾病机理遗传学和进化医学学科组（姚永刚）

	The MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with clinical features of LHON but lacking the three primary mutations
	Zou Y 1,4; Jia XY 2; Zhang AM 1,4; Wang WZ 3,4; Li SQ 2; Guo XM 2; Kong QP 3; Zhang QJ2; Yao YG1; qingjiongzhang@yahoo.com ; ygyaozh@gmail.com
	2010
发表期刊	BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
卷号	399 期号:2 页码:179-185
合作性质	其它
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.
关键词	Lhon Mt-nd1 Mutational Hotspot Penetrance Chinese
资助者	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. ; 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. ; 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. ; 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.
收录类别	SCI
语种	英语
资助者	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. ; 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. ; 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. ; 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.
文献类型	期刊论文
条目标识符	http://ir.kiz.ac.cn/handle/152453/6337
专题	科研部门_疾病机理遗传学和进化医学学科组（姚永刚）科研部门_动物模型与人类重大疾病机理重点实验室遗传资源与进化国家重点实验室科研部门_分子人类学（孔庆鹏）遗传资源与进化国家重点实验室_生命条形码中心
通讯作者	qingjiongzhang@yahoo.com; ygyaozh@gmail.com
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.,...&ygyaozh@gmail.com.(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.

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