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作 者:管立学[1] 高丽[2] 孙静华[3] 王敬先[1] 李海波[1] 王瑞丽[1]
机构地区:[1]山东省潍坊市人民医院中心实验室,261041 [2]山东省潍坊市人民医院肿瘤内科,261041 [3]山东省潍坊市人民医院遗传科,261041
出 处:《实用医学杂志》2007年第23期3673-3675,共3页The Journal of Practical Medicine
基 金:潍坊科技发展计划项目(编号:2004-8)
摘 要:目的:探讨纤溶酶原激活剂抑制物-1(plasminogen activator inhibitor-1,PAI-1)基因启动子区4G/5G多态性与特发性卵巢早衰(premature ovarian failure,POF)发病的关系。方法:应用PCR-RFLP分析,检测65例特发性POF患者(POF组)和75例正常妇女(对照组)PAI-1基因4G/5G多态性。结果:特发性POF患者组PAI-1基因型频率分布,4G/4G型为29.2%,4G/5G型为55.4%,5G/5G型为15.4%;POF患者组4G/4G基因型频率明显高于对照组(16.0%),但差异无显著性意义(x2=3.54,P>0.05);而4G等位基因频率(0.569)显著高于对照组(0.447)(x2=4.18,P<0.05),携带4G等位基因个体发生特发性POF的相对风险OR=1.64,95%CI1.02~2.64。结论:PAI-1基因4G/5G多态性与特发性POF的发病有关,4G等位基因可能是特发性POF发病的危险因素之一。Objective To investigate the relationship between plasminogen activator inhibitor-i (PAI-1)gene promoter region 4G/5G polymorphism and idiopathic premature ovarian failure (POF). Methods The 4G/5G polymorphism of PAI-1 gene in 65 patients with POF (POF group) and 75 healthy volunteer (control group) were detected by a combination of polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results The genotype frequencies of PAI-1 gene in POF group was 29.2% for 4G/4G, 55.4% for 4G/5G and 15.4% for 5G/5G, respectively. There were no significant differences of the 4G/4G genotype between POF group and control group (X^2= 3.54, P 〉 0.05),but the 4G allele frequency(0.569) was significantly higher in POF group than that(0.447) in control group(x^2=4.18, P 〈 0.05). The 4G allele was associated with POF (OR=1.64, 95%CI 1.02-2.64). Conclusion PAI-1 gene 4G/5G polymorphism may be related with POF, and 4G allele may be one of the major risk factors in the pathogenesis of POF.
关 键 词:卵巢功能早衰 纤溶酶原激活物抑制物1 基因 多态现象 遗传
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