A reappraisal of complete mtDNA variation in East Asian families with hearing impairment

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	A reappraisal of complete mtDNA variation in East Asian families with hearing impairment
	Yao YG*1,5; Salas A 2; Bravi CM 3; Bandelt HJ 4; yaoy3@nhlbi.nih.gov
	2006
发表期刊	HUMAN GENETICS
ISSN	0340-6717
卷号	119 期号:5 页码:505-515
合作性质	其它
摘要	In a number of recent studies, we summarized the obvious errors and shortcomings that can be spotted in many (if not most) mitochondrial DNA (mtDNA) data sets published in medical genetics. We have reanalyzed here the complete mtDNA genome data published in various recent reports of East Asian families with hearing impairment, using a phylogenetic approach, in order to demonstrate the persistence of lab-specific mistakes in mtDNA genome sequencing in cases where those caveats were (deliberately) neglected. A phylogenetic reappraisal of complete mtDNAs with mutation A1555G (or G11778A) indeed supports the suggested lack of association between haplogroup background and phenotypic presentation of these mutations in East Asians. In contrast, the claimed pathogenicity of mutation T1095C in Chinese families with hearing impairment seems unsupported, basically because this mutation is rather basal in the mtDNA phylogeny, being specific to haplogroup M11 in East Asia. The roles of other haplogroup specific or associated variants, such as A827G, T961C, T1005C, in East Asian subjects with aminoglycoside-induced and non-syndromic hearing loss are also unclear in view of the known mtDNA phylogeny.
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收录类别	SCI
语种	英语
文献类型	期刊论文
条目标识符	http://ir.kiz.ac.cn/handle/152453/5989
专题	科研部门_疾病机理遗传学和进化医学学科组（姚永刚）细胞与分子进化重点实验室
通讯作者	yaoy3@nhlbi.nih.gov
作者单位	1.Key Laboratory of Cellular and Molecular Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, China 2.Unidad de Gene´ tica, Instituto de Medicina Legal, Facultad de Medicina, Universidad de Santiago de Compostela, 15782, and Centro Nacional de Genotipado (CeGen), Hospital Clı´nico Universitario, 15706, Galicia, Spain 3.Laboratorio de Gene´ tica Molecular Poblacional, Instituto Multidisciplinario de Biologı´a Celular (IMBICE), La Plata, Argentina 4.Department of Mathematics, University of Hamburg, 20146, Hamburg, Germany 5.Present address:Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bldg 10 Rm 3-5216, 9000 Rockville Pike, Bethesda, MD, 20892-1202, USA
推荐引用方式 GB/T 7714	Yao YG*,Salas A,Bravi CM,et al. A reappraisal of complete mtDNA variation in East Asian families with hearing impairment[J]. HUMAN GENETICS,2006,119(5):505-515.
APA	Yao YG*,Salas A,Bravi CM,Bandelt HJ,&yaoy3@nhlbi.nih.gov.(2006).A reappraisal of complete mtDNA variation in East Asian families with hearing impairment.HUMAN GENETICS,119(5),505-515.
MLA	Yao YG*,et al."A reappraisal of complete mtDNA variation in East Asian families with hearing impairment".HUMAN GENETICS 119.5(2006):505-515.

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