本文關(guān)鍵詞： 范可尼貧血基因 卵泡發(fā)育 同源重組修復(fù) 細(xì)胞分裂　出處：《遺傳》2017年06期 　論文類型：期刊論文

【摘要】：范可尼貧血(Fanconi anemia,FA)是一種罕見的常染色體或X染色體連鎖的隱性遺傳病,其發(fā)生源于范可尼貧血基因(FA基因)突變。FA基因是一組在DNA交聯(lián)損傷中起同源重組修復(fù)作用的基因。FA女性患者常見早發(fā)性卵巢功能衰退(premature ovarian insufficient,POI)的特征,而FA小鼠也表現(xiàn)出生殖細(xì)胞嚴(yán)重缺乏,這些結(jié)果提示FA基因在哺乳動物卵泡發(fā)育中起重要作用。研究顯示FA基因在促進(jìn)原始生殖細(xì)胞增生,維持正常卵母細(xì)胞減數(shù)分裂,參與卵泡發(fā)育的促性腺激素調(diào)節(jié)以及卵母細(xì)胞與顆粒細(xì)胞生長過程中的相互調(diào)節(jié)等方面調(diào)節(jié)卵泡發(fā)育。本文綜述了FA基因在卵泡發(fā)育中的作用和分子機(jī)制方面的研究進(jìn)展,為POI的病因?qū)W解析提供遺傳基礎(chǔ)。
[Abstract]:Fanconi AnemiaFa) is a rare recessive disorder linked to autosomes or X chromosomes. The gene is a group of genes that play a role in homologous recombination repair in DNA crosslinking injury. FA gene is a common feature of premature ovarian function decline and premature ovarian in posi in female patients with DNA crosslinking injury. These results suggest that FA gene plays an important role in mammalian follicle development. Studies have shown that FA gene promotes the proliferation of primordial germ cells and maintains meiosis of normal oocytes. The regulation of gonadotropins involved in follicular development and the interaction between oocytes and granulosa cells are involved in follicular development. In this review, the role of FA gene in follicular development and its molecular mechanism are reviewed. To provide genetic basis for etiological analysis of POI.
【作者單位】： 中南大學(xué)湘雅二醫(yī)院;
【基金】：湖南省科技計(jì)劃項(xiàng)目(編號:2015SK20212)資助~~
【分類號】：R556

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