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	Co-occurrence of a1555g and g11778a in a chinese family with high penetrance of leber's hereditary optic neuropathy
	Zhang, A-Mei1,4; Jia, Xiaoyun2; Yao, Yong-Gang1,3; Zhang, Qingjiong2
刊名	Biochemical and biophysical research communications
	2008-11-07
卷号	376期号:1页码:221-224
关键词	Lhon G11778a A1555g Penetrance Chinese
ISSN号	0006-291X
DOI	10.1016/j.bbrc.2008.08.128
通讯作者	Yao, yong-gang(ygyaozh@gmail.com)
英文摘要	Co-occurrence of double pathogenic mtdna mutations with different claimed pathological roles in one mtdna is infrequent. it is tentative to believe that each of these pathogenic mutations would have its own deleterious effect. here we reported one three-gene ration chinese family with a high penetrance of lhon (78.6%). analysis of the complete mitochondrial genome in the proband revealed the presence of the lhon primary mutation g11778a in the nadh dehydrogenase 4 (nd4) gene and a deafness-associated mutation a1555g in the 12s rrna gene. the other mtdna variants in this family suggested a haplogroup status g2b. although a1555g has long been confirmed to be a primary mutation for amino-glycoside-induced and non-syndromic hearing loss, none of the maternally related members in this family showed hearing impairment. it thus seems that the occurrence of a1555g in this family had no pathological manifestation. however, whether a1555g has a synergistic effect with g11778a and contribute to the high penetrance of lhon remained an open question. to our knowledge, this is the first report that identified the co-existence of a deafness mutation a1555g and a primary lhon mutation g11778a in one family. (c) 2008 elsevier inc. all rights reserved.
WOS关键词	RIBOSOMAL-RNA GENE ; NON-SYNDROMIC DEAFNESS ; MITOCHONDRIAL-DNA ; SENSORINEURAL DEAFNESS ; HEARING IMPAIRMENT ; MUTATION ; MTDNA ; DISEASE ; IDENTIFICATION ; PHYLOGENY
WOS研究方向	Biochemistry & Molecular Biology ; Biophysics
WOS类目	Biochemistry & Molecular Biology ; Biophysics
语种	英语
出版者	ACADEMIC PRESS INC ELSEVIER SCIENCE
WOS记录号	WOS:000259783900044
内容类型	期刊论文
URI标识	http://www.corc.org.cn/handle/1471x/2386120
专题	中国科学院大学
通讯作者	Yao, Yong-Gang
作者单位	1.Chinese Acad Sci, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming 650223, Yunnan, Peoples R China 2.Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangzhou 510060, Guangdong, Peoples R China 3.Chinese Acad Sci, Kunming Inst Zool, State Key Lab Genet Resources & Evolut, Kunming 650223, Peoples R China 4.Chinese Acad Sci, Grad Sch, Beijing 100039, Peoples R China
推荐引用方式 GB/T 7714	Zhang, A-Mei,Jia, Xiaoyun,Yao, Yong-Gang,et al. Co-occurrence of a1555g and g11778a in a chinese family with high penetrance of leber's hereditary optic neuropathy[J]. Biochemical and biophysical research communications,2008,376(1):221-224.
APA	Zhang, A-Mei,Jia, Xiaoyun,Yao, Yong-Gang,&Zhang, Qingjiong.(2008).Co-occurrence of a1555g and g11778a in a chinese family with high penetrance of leber's hereditary optic neuropathy.Biochemical and biophysical research communications,376(1),221-224.
MLA	Zhang, A-Mei,et al."Co-occurrence of a1555g and g11778a in a chinese family with high penetrance of leber's hereditary optic neuropathy".Biochemical and biophysical research communications 376.1(2008):221-224.

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