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| Leber遗传性视神经病5家系遗传分析 | |
| 引用本文： | 徐艳芳,谢庆瑞,陈辉,金学民,李晓文.Leber遗传性视神经病5家系遗传分析[J].河南职工医学院学报,2008,20(2):123-126. |
| 作者姓名： | 徐艳芳 谢庆瑞 陈辉 金学民 李晓文 |
| 作者单位： | 1. 郑州市中医院ICU室,河南,郑州,450007 2. 漯河市第一人民医院妇产科,河南,漯河,462000 3. 郑州大学基础医学院细胞生物学与医学遗传学教研室 4. 郑州大学第一附属医院眼科,河南,郑州,450052 |
| 摘 要： | 目的了解LHON家系遗传特点与规律。方法调查5个LHON家系，分析该病的发生率、患者发病年龄、性别比例。结果5个家系的母系成员共82人。发病31人，发病率25．2％，男女比例20：11，平均发病年龄29．8岁，5个家系母系成员的发病率随着世代的增加而呈递减趋势，并发现4个家系呈遗传早现现象。结论LHON男性发病率高于女性，其遗传规律符合线粒体遗传的基本特点并存在遗传早现现象。 |
| 关 键 词： | Leber遗传性视神经病 突变 遗传早现 |
| 文章编号： | 1008-9276(2008)02-0123-04 |
| 修稿时间： | 2007年12月30 |
Genetic Analysis of 5 Pedigrees with Leber's Hereditary Optic Neuropathy |
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| XU Yan-fang,XIE Qing-rui,CHEN Hui,et al..Genetic Analysis of 5 Pedigrees with Leber''''s Hereditary Optic Neuropathy[J].Journal of Henan Medical College For Staff and Workers,2008,20(2):123-126. | |
| Authors: | XU Yan-fang XIE Qing-rui CHEN Hui |
| Institution: | XU Yan-fang1,XIE Qing-rui2,CHEN Hui3,et al.(1.Department of ICU,Zhengzhou Municipal Hospital of Traditional Chinese Medicine,Zhengzhou Henan 450007,China2.Department of Obstetrics , Gynecology,Luohe People\'s Hospital,Luohe Henan 462000,China3.Department of Cell Biology , Medical Genetics,College of Basic Medical Sciences,Zhengzhou University,Zhengzhou Henan 450052,China) |
| Abstract: | Objective To observe the genetic characters and rules in LHON pedigrees.Methods Studying the frequency of patients,the age of onset and the gender proportion of the patients in five LHON pedigrees.Results There were 82 maternal members in five LHON pedigrees and the number of patients was 31,the frequency of patients was 25.2%,the proportion of male and female was 20:11,the average age of onset was 29.8.The frequency of patients in maternal members of five LHON pedigrees decreased with the addition of gener... |
| Keywords: | Leber\'s hereditary optic neuropathy mutation anticipation |
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