Co-occurrence of A1555G and G11778A in a Chinese family with high penetrance of Leber's hereditary optic neuropathy
文献类型：期刊论文
| 作者 | Zhang AM1,4; Jia XY2; Yao YG[*]1,3; Zhang QJ[*]2 |
| 刊名 | BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
 |
| 出版日期 | 2008 |
| 卷号 | 376期号:1页码:221-224 |
| 关键词 | LHON G11778A A1555G penetrance Chinese |
| ISSN号 | 0006-291X |
| 通讯作者 | ygyaozh@gmail.com ; qingjiongzhang@yahoo.com |
| 合作状况 | 其它 |
| 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. |
| 收录类别 | SCI |
| 资助信息 | This study was supported by grants from the Chinese Academy of Sciences (Y.-G.Y.) and National Science Fund for Distin- guished Young Scholars (30725044 to Q.Z.). Y.-G.Y. 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 |
| 源URL | [http://159.226.149.42:8088/handle/152453/6013]  |
| 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 |
| 作者单位 | 1.Key Laboratory of Animal Models and Human Disease Mechanisms, Kunming Institute of Zoology, Chinese Academy of Sciences, Jiaochang Donglu 32, 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 | Zhang AM,Jia XY,Yao YG[*],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 AM,Jia XY,Yao YG[*],&Zhang QJ[*].(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 AM,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. |
入库方式： OAI收割
来源：昆明动物研究所
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