摘要
目的探讨中国南方汉族妇女CYP1B1基因第3外显子432C/G(rs1056836)位点单核苷酸多态性(single nucleotide polymorphism,SNP)与子宫内膜异位症(endometriosis,Ems)遗传易感性的相关性.方法收集经手术证实的432例Ems患者和499例对照人群外周血,采用荧光定量PCR为基础的高分辨率熔解曲线分析(high resolution melting,HRM)技术检测CYP1B1 432C/G基因SNP.结果病例组和对照组妇女CYP1B1 432C/G位点CC、CG、GG基因型频率分别为80.6%、18.8%、0.7%以及77.6%、21.0%、1.4%,2组的基因频率分布差异无统计学意义(P>0.376);C和G等位基因分布为89.8%、10.1%以及88.1%、11.9%,2组差异无统计学意义(P>0.376).结论中国南方汉族妇女CYP1B1 432C/G位点SNP与Ems遗传易感性无明显相关性.
Objective To investigate the association of cytochrome P450 1B1 in exon 3 codon 432 （C→G） （rs1056836） single nucleotide polymorphism （SNP） with the genetic susceptibility to endometriosis （Eros） in south Han Chinese women. Methods A case-control study was performed in 432 Ems patients and 499 control women to evaluate the SNP of CYP1B1 432C/G by using a fluorescent quantitative PCR-based high resolution melting （HRM） method. Results The frequencies ofgenotypes CC, CG, GG and two alleles CG in controls （77.6%, 21.0% , 1.4% , 88.1% and 11.9%） were not significantly different from those in patients with endometriosis （80.6%, 18.8%, 0.7%, 89.8% and 10.1%）. Conclusion There is no significant association between the SNP of CYP1B1 432C/G and genetic susceptibility to Ems in south Han Chinese women.
出处
《昆明医学院学报》
CAS
2012年第7期21-23,共3页
Journal of Kunming Medical College
基金
国家自然科学基金资助项目(30801012)
