| 一个进行性肌营养不良症家系的研究 |
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| 引用本文： | 毕瑞明,许松玲.一个进行性肌营养不良症家系的研究[J].中国优生与遗传杂志,2006,14(2):110. |
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| 作者姓名： | 毕瑞明 许松玲 |
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| 作者单位： | 1. 山东菏泽学院,菏泽,274015;山东农业大学,泰安,271018
2. 山东菏泽学院,菏泽,274015 |
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| 摘 要： | 目的寻找由DNA损伤(如突变)引起的人类表型缺陷,为人类遗传资源的收集与保藏以及人类基因结构与功能的研究打下基础。方法通过实地调查得到表型缺陷家系,然后进行系谱分析。结果得到一进行性肌营养不良家系,4代41位成员中有12例患者。结论进行性肌营养不良是由DNA损伤引起的人类表型缺陷;该病症符合常染色体显性遗传;该病的发生具有一定的外显率和表现度。
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| 关 键 词： | 常染色体显性遗传 家系 进行性肌营养不良 |
| 文章编号： | 1006-9534(2006)02-0110-02 |
| 修稿时间： | 2005年9月16日 |
Survey of a family with progressive muscular dystrophy |
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| BI Rui-ming,XU Song-ling.Survey of a family with progressive muscular dystrophy[J].Chinese Journal of Birth Health & Heredity,2006,14(2):110. |
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| Authors: | BI Rui-ming XU Song-ling |
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| Abstract: | Objective:Looking for the human phenotype blemish caused by injured DNA, collecting and storing the human genetic resources are necessary in order to study the structure and function of the human genes. Methods: The study was done by on - the -spot investigation and the pedigree analysis. Results: A family with progressive muscular dystrophy was obtained. There were 12 cases in 4 generations in this family. Conclusion: The progressive muscular dystrophy is the human phenotype blemish caused by injured DNA. It is compatible with an autosomal dominant inheritance and it has penetrance and expressivity. |
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| Keywords: | Autosomal dominant inheritance Family Progressive muscular dystrophy |
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