XRCC1多态 p.Arg194Trp,p.Arg280His,和p.Arg399Gln,多环芳香碳水化合物,和不孕症:一个案例-对照和在研究
Jatinder Singh Sahota1, Kamlesh Guleria1, Vasudha Sambyal2
1Cytogenetics Laboratory, Department of Human Genetics, Guru Nanak Dev University (GNDU), Amritsar, Punjab, 143005, India.
Biochemical genetics
|March 22, 2024
概括
在XRCC1的遗传变异影响DNA修复,并可能影响不孕症的风险,特别是当暴露于多环芳 (PAHs). 这项研究发现,特定的XRCC1多态性与西北印度人的男性和女性不孕症风险降低有关.
科学领域:
- 遗传学 遗传学 是一个
- 环境健康 环境健康
- 生殖生物学 生殖生物学
背景情况:
- 在DNA单链断裂修复中,X射线修复交叉补充1 (XRCC1) 是至关重要的.
- 在XRCC1中的多态性可能会损害DNA修复效率.
- 多环芳 (PAH) 是环境毒素,形成与不孕症相关的DNA添加物.
研究的目的:
- 调查在西北印度人口中三个XRCC1基因多态 (p.Arg194Trp,p.Arg280His,p.Arg399Gln) 与男性/女性不孕症之间的关联.
- 预测XRCC1多形态对与PAHs相互作用的in silico效应.
主要方法:
- 病例控制研究涉及201个不育的个人和201个不育的对照.
- 使用PCR-RFLP进行XRCC1多态的基因定型.
- 在基分子对接分析XRCC1与各种PAHs.
主要成果:
- XRCC1 p.Arg280他的GA基因型和A等位基因与男性不孕症风险降低有关.
- XRCC1 p.Arg399Gln AA基因型和A等位基因与女性初级不孕症风险降低有关.
- 在XRCC1 p.Arg194Trp T等位基因中,女性不孕症的风险增加.
- 在分析表明,XRCC1多态对PAH结合没有显著影响.
结论:
- 特定的XRCC1多态变异改变了研究的西北印度人口中男性和女性不孕症的风险.
- 已识别的XRCC1变异不会显著改变与PAHs预测的相互作用.
- 这项研究为XRCC1在女性不孕症中的作用提供了新的见解.
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