| Leber遗传性视神经病遗传早发现象观察 |
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| 引用本文： | 孟晓峰,陈辉,杜培洁,宋国英,金学民,李晓雯.Leber遗传性视神经病遗传早发现象观察[J].郑州大学学报(医学版),2007,42(3):520-523. |
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| 作者姓名： | 孟晓峰 陈辉 杜培洁 宋国英 金学民 李晓雯 |
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| 作者单位： | 郑州大学基础医学院细胞生物学与医学遗传学教研室,郑州,450001;郑州大学第一附属医院眼科,郑州,450052 |
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| 摘 要： | 目的:了解Leber遗传性视神经病(LHON)家系遗传早发现象及其与突变位点的关系.方法:调查5个LHON家系,采用DNA测序方法对其中3个家系的31位母系成员和40例健康人的原发突变位点11778和继发突变位点13730、13708、15257进行检测.结果:5个被调查的家系中4个存在遗传早发现象,31位母系成员均存在11778位点,无继发位点突变;40例正常人4个位点均无突变.所有受试者中新发现11719和15326位点的突变.结论:LHON存在遗传早发现象,但与各突变位点均无明显关系.
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| 关 键 词： | Leber遗传性视神经病 突变 早发 |
| 收稿时间： | 2006-07-20 |
| 修稿时间： | 2006-07-20 |
Anticipation in Leber's hereditary optic neuropathy |
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| MENG Xiaofeng,CHEN Hui,DU Peijie,SONG Guoying,JIN Xuemin,LI Xiaowen.Anticipation in Leber's hereditary optic neuropathy[J].Journal of Zhengzhou University: Med Sci,2007,42(3):520-523. |
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| Authors: | MENG Xiaofeng CHEN Hui DU Peijie SONG Guoying JIN Xuemin LI Xiaowen |
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| Institution: | 1 Department of Cell Biology and Medical Genetics, College of Basic Medical Sciences, Zhengzhou University, Zhengzhou 450001 ;2 Department of Ophthalmology, the First Affiliated Hospital, Zhengzhou University, Zhengzhou 450052 |
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| Abstract: | Aim: To observe the relationship between anticipation in Leber's hereditary optic neuropathy (LHON) pedigrees and mutations of mitochondrial DNA(mtDNA) in LHON pedigrees. Methods:Five LHON pedigrees were studied, only 31 maternal members from three LHON pedigrees were performed mtDNA analyses for primary mutation at np11778 and secondary mutation at np13730, np13708,np15257 by DNA sequencing. A total of 40 healthy individuals were used as control. Results: The age of onset was younger than that of parental generation in four LHON pedigrees. DNA sequencing revealed np11778G to A in all samples of the experiment group. No mutation was found at np13730,np13708, or np15257, but mutation was first found at np11719 and np15326. Conclusion: There is anticipation in LHON, which is not associated with the mutated sites. |
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