| 亨丁顿舞蹈症家系的调查 |
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| 引用本文： | 毕瑞明,付加芳. 亨丁顿舞蹈症家系的调查[J]. 中国优生与遗传杂志, 2007, 15(8): 118-118,60 |
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| 作者姓名： | 毕瑞明 付加芳 |
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| 作者单位： | 山东菏泽学院,菏泽,274015 |
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| 摘 要： | 目的 寻找由DNA损伤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 得到一个亨丁顿舞蹈症家系,4代16位成员中有5例患者.结论 亨丁顿舞蹈症（Huntington disease）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.
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| 关 键 词： | 常染色体显性遗传 家系 亨丁顿舞蹈症 |
| 文章编号： | 1006-9534（2007）08-0118-01 |
| 收稿时间： | 2007-08-22 |
| 修稿时间： | 2007-08-22 |
Survey of the family with Huntington disease |
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| BI Rui-ming,FU Jia-fang. Survey of the family with Huntington disease[J]. Chinese Journal of Birth Health & Heredity, 2007, 15(8): 118-118,60 |
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| Authors: | BI Rui-ming FU Jia-fang |
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| Affiliation: | Department of Life Science of Heze University, Shandong 274015 |
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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 Huntington disease was obtained.There were 5 cases in 4 generations in this family.Conclusion: Huntington disease is the human phenotype blemish caused by injured DNA.It is compatible with the autosomal dominant inheritance. |
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| Keywords: | Autosomal dominant inheritance Family Huntington disease |
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