Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A

CORC > 昆明动物研究所 > 昆明动物研究所 > 遗传资源与进化国家重点实验室 > 分子进化基因组学

	Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A
	Wang HW 1,3; Jia XY 2; Ji YL 2; Kong QP 4; Zhang QJ[]2; Yao YG[]1,4; Zhang YP 3,4
刊名	MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
	2008
卷号	643 期号:1-2 页码:48-53
关键词	LHON mtDNA G11778A phylogeny haplogroup
ISSN号	0027-5107
通讯作者	qingjiongzhang@yahoo.com ; ygyaozh@yahoo.com
英文摘要	The penetrance of Leber's hereditary optic neuropathy (LHON) in families with primary mitochondrial DNA (mtDNA) mutations is very complex. Matrilineal and nuclear genetic background, as well as environmental factors, have been reported to be involved in different affected pedigrees. Here we describe two large Chinese families that show a striking difference in the penetrance of LHON, in which 53.3% and 15.0% of members were affected (P < 0.02), respectively. Analysis of the complete mtDNA genome of the two families revealed the presence of the primary mutation G11778A and several other variants suggesting the same haplogroup status G2a. The family with higher penetrance contained a previously described secondary mutation G13708A, which presents a polymorphism in normal Chinese samples and does not affect in vivo mitochondrial oxidative metabolism as described in a previous study. Evolutionary analysis failed to indicate any putatively pathogenic mutation that cosegregated with G11778A in these two pedigrees. Our results suggest that the variable penetrance of LHON in the two Chinese families is independent of both their mtDNA haplotype background and a secondary mutation G13708A. As a result, it is likely that unknown nuclear gene involvement and/or other factors contribute to the strikingly different penetrance of LHON. (c) 2008 Elsevier B.V. All rights reserved.
收录类别	SCI
资助信息	This study was sup- ported by grants from National Science Fund for Distinguished Young Scholars (30725044 to QZ), National Science Foundation of China (ZYP), and the Chinese Academy of Sciences (YGY, KQP, ZYP). YGY was supported by the “Century Program” (or Hundreds-Talent Program) of the Chinese Academy of Sciences.
语种	英语
公开日期	2010-08-24
内容类型	期刊论文
源URL	[http://159.226.149.42:8088/handle/152453/4279]
专题	昆明动物研究所_分子进化基因组学昆明动物研究所_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_重大疾病机理的遗传学
作者单位	1.Key Laboratory of Animal Models and Human Disease Mechanisms, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China 2.State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China 3.Laboratory for Conservation and Utilization of Bio-resource, Yunnan University, Kunming 650091, China 4.State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan 650223, China
推荐引用方式 GB/T 7714	Wang HW,Jia XY,Ji YL,et al. Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A[J]. MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS,2008,643(1-2):48-53.
APA	Wang HW.,Jia XY.,Ji YL.,Kong QP.,Zhang QJ[*].,...&Zhang YP.(2008).Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A.MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS,643(1-2),48-53.
MLA	Wang HW,et al."Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A".MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS 643.1-2(2008):48-53.