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新型BMP15和GDF9变体对意外的卵巢反应不佳的影响

Anahita Mehdizadeh¹, Mansoureh Soleimani^1,2, Fatemehsadat Amjadi^1,3

¹Department of Anatomical Sciences, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.

Reproductive sciences (Thousand Oaks, Calif.)

|October 17, 2023

概括

骨形态遗传蛋白15 (BMP15) 和生长差异化因子9 (GDF9) 的遗传变异与意外的卵巢不良反应 (UPOR) 有关. 特定的BMP15和GDF9突变可能会降低蛋白质表达,影响卵巢刺激,而GDF9多态性等位基因则提供保护.

科学领域:

生殖生物学生殖生物学
人类遗传学人类遗传学
分子内分泌学分子内分泌学

背景情况:

意外的卵巢不良反应 (UPOR) 的特点是,在具有正常卵巢储备的年轻女性中,检索的卵细胞少于十个.
骨形态遗传蛋白15 (BMP15) 和生长分化因子9 (GDF9) 是关键的卵细胞特异性调节卵泡发生的因素.

研究的目的:

调查BMP15和GDF9基因中的遗传变异与UPOR发生之间的关联.
评估这些变异对蛋白质表达的影响及其在卵巢反应中的潜在作用.

主要方法:

在50名UPOR患者和50名正常卵巢响应者 (NOR) 中对BMP15和GDF9基因序列的比较分析.
基因组DNA提取,整个外基因区域测序,以及在卵泡液中进行蛋白质表达分析的西式涂抹.
在分析中预测识别的变种的病原性.

主要成果:

在BMP15和GDF9中发现了四种新型变异. 误解变异 (c.967-968insA和c.296A>G) 仅在UPOR患者中发现,蛋白质表达减少.
一种GDF9多态 (C447T) 显示出一种保护作用,突变的等位基因 (T) 在NOR个体中更为普遍 (58%与UPOR的37%相比).
确定的错误感应突变被预测为有害的,可能导致卵巢反应减少.

结论:

BMP15和GDF9的遗传变异与卵泡发育和卵巢反应有显著的关联.
特定的BMP15和GDF9突变可能通过损害卵泡生成和减少蛋白质表达来促进UPOR.
GDF9 C447T多态的T等位基因显示出对UPOR的保护作用.

关键词:

在BMP15中,BMP15是BMP15中的一个.在GDF9中,GDF9是GDF9的字体.定位的标准定位的标准序列化是指测序的使用.意想不到的卵巢反应不佳

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