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脆性X智力低下1基因与卵巢功能关系的研究进展

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Author:: No author available

Journal Title:: Chinese Journal of Obstetrics and Gynecology

Issue:: 3

DOI:: 10.3760/cma.j.issn.0529-567x.2014.03.020

Key Word:: No keyword available

Abstract：脆性X智力低下1(fragile X mental retardation 1,FMR1)基因最初受到重视缘于其可导致一种常见的遗传性疾病,即脆性X综合征(fragile X syndrome,FXS),但是近年来其与卵巢功能的关系也引起了很多生殖学专家的关注,本文就这一方面的进展做一综述,希望对临床工作者有所帮助.一、FMR1基因与卵巢功能的关系FMR1基因位于X染色体上Xq27.3区域,全长40个碱基,在其5 '端非编码区有一个不稳定的核苷酸CGG的重复序列,在世代遗传的过程中可能会发生异常的扩增,当扩增＞ 200次时会导致FXS.CGG重复序列在人群中具有多态性,包括正常范围(CGG重复5～44次)、中间范围(又称灰色区域,CGG重复45～54次)、前突变(CGG重复55～200次)及全突变(CGG重复＞200次)4种形式.

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