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卵泡刺激激素受体基因的突变会导致遗传性高性卵巢衰竭
K Aittomäki1, J L Lucena, P Pakarinen
1Department of Medical Genetics, University of Helsinki, Finland.
Cell
|September 22, 1995
概括
卵泡刺激激素受体 (FSHR) 基因的新奇突变导致正常胆核类型家族的卵巢乱症 (ODG). 这一遗传发现确定了这种异质生殖障碍的特定原因.
科学领域:
- 遗传学 是一个遗传学.
- 生殖内分泌学 生殖内分泌学
- 分子生物学分子生物学
背景情况:
- 卵巢异位症 (ODG) 具有正常的型是一个异质的条件.
- 一些ODG病例表现出门德尔式的递归遗传模式.
研究的目的:
- 为了确定正常型的家庭中ODG的遗传基础.
- 调查卵泡刺激激素受体 (FSHR) 基因在ODG中的作用.
主要方法:
- 在多重家族中进行系统的链接分析,以映射ODG位点.
- 在受影响个体中对FSHR基因的突变查.
- 在转染细胞中对突变FSHR的功能研究.
主要成果:
- 一个ODG的位置被映射到染色体2p.
- 鉴定了FSHR基因第7个表原中的C566T过渡,预测了Ala到Val的替代 (A189V).
- 在受影响的家族中,FSHR A189V突变与ODG表型分离.
- 突变FSHR表达的转染细胞显示,尽管具有正常的联结亲和力,但联结能力和信号转导降低.
结论:
- 鉴定到的FSHR突变是这些家族中超性卵巢发育失调的原因.
- 这一发现阐明了ODG病例的一个子集的特定遗传病因.
- 这项研究强调了FSHR在卵巢功能中的关键作用.
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