| 先天性小瞳孔白内障症一家系研究 |
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| 引用本文： | 毕瑞明,杜秋霞,朱道玉. 先天性小瞳孔白内障症一家系研究[J]. 中国优生与遗传杂志, 2006, 14(3): 102-103 |
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| 作者姓名： | 毕瑞明 杜秋霞 朱道玉 |
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| 作者单位： | 山东菏泽学院生命科学系,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,为收集与保藏人类遗传资源,探明人类基因结构与功能奠定基础。方法通过实地调查得到表型缺陷家系,然后进行系谱分析。结果得到一先天性小瞳孔白内障家系,5代23位成员中有8例患者。结论先天性小瞳孔白内障是由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 先天性小瞳孔白内障 家系 |
| 文章编号： | 1006-9534(2006)03-0102-02 |
| 修稿时间： | 2005-09-16 |
Survey of a family with congenital microconia-cataract |
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| BI Rui-ming,DU Qiu-xia,ZHU Dao-yu. Survey of a family with congenital microconia-cataract[J]. Chinese Journal of Birth Health & Heredity, 2006, 14(3): 102-103 |
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| Authors: | BI Rui-ming DU Qiu-xia ZHU Dao-yu |
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| Abstract: | Objective: Looking for the human phcnotypc blemish causcd 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 congenital microconia-cataract was obtained.There were 8 cases in 5 generations in this family.Conclusion:The congenital microconia-cataract is the human phenotype blemish caused by injured DNA.It is compatible with an autosomal dominant inheritance. |
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| Keywords: | Autosomal dominant inheritance Congenital microconia-cataract Family |
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