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在伊朗夫妇中,Y染色体AZF区域微切除与反复流产的关联:一项病例控制研究

Nasrin Pazoki¹, Mitra Salehi², Seyed Abdolhamid Angaji³

¹Department of Genetics, Faculty of Biological Sciences, North Tehran Branch, Islamic Azad University, Tehran, Iran.

Molecular genetics & genomic medicine

|February 26, 2024

概括

亚子精子因子 (AZF) 区域的Y染色体微切除与重复性妊娠丧失 (RPL) 有关. 具体来说,sY134 (AZFb) 删除与伊朗男性的RPL显著相关,有助于遗传咨询.

科学领域:

生殖医学生殖医学
人类遗传学人类遗传学
安德罗学与人类学

背景情况:

复发性流产 (RPL) 越来越多地与精子基因组异常有关.
Y染色体中亚精子因子 (AZF) 区域的微切除与RPL有关.
这项研究调查了伊朗夫妇中AZF微切除和RPL之间的关联.

研究的目的:

确定在AZF地区的Y染色体微切除的流行率,在经历重复流产的伊朗男性中.
评估由精液参数和激素水平显示的特定AZF微切除和丸功能受损之间的相关性.
评估AZF微切除查对RPL夫妇遗传咨询的临床意义.

主要方法:

一项涉及240名男性 (120名RPL,120名对照) 的病例控制研究.
分析包括精液参数,性激素水平以及使用多重PCR和YChromStrip套件检测Y染色体微删除.
研究了AZFa,AZFb和AZFc区域的特定序列标记位点 (STS) 标记.

主要成果:

患有RPL的男性表现出丸功能受损,与对照人群相比,精液参数和激素水平的显著变化证明了这一点 (p < 0.05).
在sY134 (AZFb) 和RPL (p = 0.03) 中微切除之间发现了显著的关联.
在RPL组的AZFb (sY134,sY127) 和AZFc (sY254) 区域观察到删除,而对照组没有删除.

结论:

在sY134 (AZFb) 区域的微切除与伊朗男性的重复妊娠流产有显著的相关性.
AZF微删除查对种族遗传咨询和管理反复流产非常有价值.
建议对更大的人口和不同种族群体进行进一步的研究,以阐明AZF微切除的作用和其他因素,如RPL中的表观遗传变化.

关键词:

亚精子缺血症 (Azospermia) 是一种微微切除的情况.多重复合PCR是一种复合PCR.经常发生的流产.

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