在不育的男性中,PRM1,PRM2,AZFc的基因多态,微删除和基因表达
Nashwah Jabbar Kadhim1, Narges Dastmalchi2, Parisa Banamolaei1
1Department of Animal Biology, Faculty of Natural Sciences, University of Tabriz, Tabriz, Iran.
Reports of biochemistry & molecular biology
|September 19, 2023
概括
PRM1和PRM2基因的基因突变以及AZF区域的微切除与男性不孕症有关. PRM1 CA基因型是精子症的风险因素,而DAZ1显示出诊断潜力.
科学领域:
- 遗传学 是一个遗传学.
- 生殖医学 生殖医学
- 分子生物学分子生物学
背景情况:
- 男性不孕症影响15%的夫妇,亚精精是最常见的原因,通常是由于遗传因素.
- 在男性不孕症中,PRM基因单核酸多态 (SNPs) 和AZF区域微切除的特定作用需要进一步研究.
研究的目的:
- 调查PRM1和PRM2基因多态和AZF区域微切除与男性不孕症之间的关联.
- 为了评估PRM1,PRM2和DAZ1基因在不孕男性中的表达水平.
主要方法:
- 一个病例控制研究,涉及100名不育的男性和100名肥沃的对照.
- 多重PCR用于AZFc部分删除,PCR-RFLP用于PRM1/PRM2SNP,以及定量实时PCR用于丸组织中的基因表达.
主要成果:
- 在rs779337774 (PRM2) SNP频率上没有显著差异;然而,rs737008CA基因型 (PRM1) 和C等位基因是男性不孕症的危险因素.
- sY254和sY255的缺失在阿佐精子和严重的小精子精子患者中被发现.
- 显著低的PRM1,PRM2和DAZ1表达;DAZ1显示出诊断生物标志物的潜力 (AUC=0.742).
结论:
- PRM1 CA基因型与阿佐精子发生率有显著的关联.
- 减少这些基因的表达与增加的困难相关,在精子检索中增加的困难.
- 作为男性不孕症的诊断生物标志物,DAZ1显示出前景.
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