| 多囊卵巢综合征患者的生长分化因子9基因的突变分析 |
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| 引用本文： | 李键,乔杰,唐荣欣,闫丽盈. 多囊卵巢综合征患者的生长分化因子9基因的突变分析[J]. 中国优生与遗传杂志, 2008, 16(3): 54-55 |
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| 作者姓名： | 李键 乔杰 唐荣欣 闫丽盈 |
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| 作者单位： | 北京大学第三医院生殖中心,100083 |
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| 基金项目： | 教育部优秀青年教师资助计划 |
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| 摘 要： | 目的通过对多囊卵巢综合征（PCOS）妇女的生长分化因子9（GDF-9）基因的突变分析，探索GDF-9基因与PCOS的发病机制的关系。方法对120例PCOS患者釉80例正常对照的GDF-9基因进行聚合酶链反应（PCR）特异扩增，应用单链构象多态性（SSCP）分析和DNA测序方法检测基因突变。结果PCOS患者的GDF-9的所有外显予均未发现错义突变。结论GDF-9因子的DNA变异可能与PCOS的发病没有相关关系。研究PCOS患者的GDF-9的mRNA与蛋白表达水平与其发病的关系可能是今后的研究方向。
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| 关 键 词： | 多囊卵巢综合征 生长分化因子9 基因突变 |
| 文章编号： | 1006-9534（2008）03-0054-02 |
| 收稿时间： | 2007-08-22 |
| 修稿时间： | 2007-08-22 |
Mutation analysis of the growth differentiation factor-9 gene in patients with polycystic ovary syndrome |
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| LI Jian,QIAO Jie,TANG Rong-xin,YAN Li-ying. Mutation analysis of the growth differentiation factor-9 gene in patients with polycystic ovary syndrome[J]. Chinese Journal of Birth Health & Heredity, 2008, 16(3): 54-55 |
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| Authors: | LI Jian QIAO Jie TANG Rong-xin YAN Li-ying |
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| Affiliation: | LI Jian, QIAO fie, TANG Rong-xin, YAN Li-ying. (Reproductive Medicine Center, Peking University Third Hospital, Beijing 100083, China) |
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| Abstract: | Objectives： To investigate the relationship between growth differentiation factor （GDF） -9 gene mutations and poly- cystic ovary syndrome （PCOS）, Methods： The GDF -9 gene mutations from 120 women with PCOS and 80 nornal controls were analyzed by extraction of DNA from blood samples for subsequent polymerase ehain reaction （PCR） , Amplified DNA was analyzed by single strand conformation polymorphism （SSCP） and direct sequencing, Results： No missense mutation was found in any exons of the GDF -9 gene in patients with PCOS, Conclusion： There might be no relationship between GDF -9 gene mutations and PCOS. |
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| Keywords: | Polyeystie ovary syndrome Growth differentiation factor -9 Gene mutations |
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