| 生长激素相关基因突变与原发闭经的关系 |
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| 引用本文： | 刘学飞,杨真荣,王慧,周波,陈燕,唐艳平. 生长激素相关基因突变与原发闭经的关系[J]. 华中科技大学学报(医学版), 2005, 34(4): 472-474 |
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| 作者姓名： | 刘学飞 杨真荣 王慧 周波 陈燕 唐艳平 |
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| 作者单位： | 1. 复旦大学上海医学院分子医学教育部重点实验室,上海,200032;华中科技大学同济医学院遗传学教研室,武汉,430030
2. 华中科技大学同济医学院遗传学教研室,武汉,430030 |
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| 摘 要： | 目的探讨生长激素相关基因突变与原发闭经的关系。方法对130例确诊为原发闭经的患者和30名健康女性个体进行核型分析，并采用单链构象多态性分析（SSCP）等方法，对原发闭经患者的生长激素释放激素受体基因（GHRHR）进行检测。结果有33例原发闭经患者出现染色体核型异常，1例出现GHRHR基因点突变，且该突变位点在第7个外显子中。结论GHRHR基因第7个外显子的点突变可能是原发闭经的病因之一。
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| 关 键 词： | 原发闭经 单链构象多态性分析 生长激素 生长激素释放激素受体 |
| 修稿时间： | 2004-01-26 |
Relationship between Mutation of Growth Hormone-related Genes and Primary Amenorrhea |
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| Liu Xuefei,,Yang Zhenrong,Wang Hui et al Key Laboratory of Molecular Medicine,Ministry of Education,College of Shanghai Medicine,Fudan University,Shanghai. Relationship between Mutation of Growth Hormone-related Genes and Primary Amenorrhea[J]. Journal of Huazhong University of Science and Technology(Health Sciences), 2005, 34(4): 472-474 |
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| Authors: | Liu Xuefei Yang Zhenrong Wang Hui et al Key Laboratory of Molecular Medicine Ministry of Education College of Shanghai Medicine Fudan University Shanghai |
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| Affiliation: | Liu Xuefei~1,2,Yang Zhenrong~2,Wang Hui~2 et al ~1Key Laboratory of Molecular Medicine,Ministry of Education,College of Shanghai Medicine,Fudan University,Shanghai 200032~2Department of Genetics,Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430030 |
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| Abstract: | Objective To investigate the relationship between the mutation of growth hormone-related genes and primary amenorrhea.Methods The karyotypes of 130 women with primary amenorrhea and 30 healthy women were analyzed. Single strand conformation polymorphism analysis (SSCP) and other methods were employed to detect the mutation of growth hormone releasing hormone receptor (GHRHR) gene.Results Among the 130 cases of primary amenorrhea, 33 had abnormal karyotypes. A point mutation at exon 7 of GHRHR gene was found in one patient.Conclusion The point mutation of GHRHR gene may be one of the causes of primary amenorrhea. |
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| Keywords: | primary amenorrhea single strand conformation polymorphism analysis growth hormone growth hormone releasing hormone receptor |
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