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目的探讨抗凝血酶III(AT-III)、凝血因子Ⅴ(FactorV)基因多态性与广东籍汉族早孕期妇女子痫前期和子痫发生的关系。方法回顾性分析567例早孕期广东籍汉族妇女AT-III及FactorV基因的突变情况,将其中54例妊娠20周后发生子痫前期和子痫的患者作为观察组,513例正常妊娠者作为对照组。基因突变检测分别采用DdeI和MnlI限制性内切酶片段长度多态性分析。结果观察组ATIIIDdeI++、DdeI+-及DdeI--基因型频率分别为51.9%、27.8%和20.4%,对照组则分别为66.7%、25.5%和7.8%。观察组AT III DdeI-基因型频率显著高于对照组(34.3%,20.6%,P<0.01),AT III DdeI--基因型在子痫前期和子痫发病中的相对风险率为3.025。观察组和对照组均未检出Factor VLeiden突变。结论 ATIII基因多态性可能与广东籍汉族妇女子痫前期和子痫发病相关,而Factor VLeiden突变与其发病无关。
Objective To investigate the relationship between antithrombin III (AT-III) and factor V (VVV) gene polymorphisms and preeclampsia and eclampsia in early Han Chinese in Guangdong. Methods A retrospective analysis of 567 cases of early pregnancy in Guangdong Han women AT-III and FactorV gene mutations, of which 54 cases of pregnant women with preeclampsia and eclampsia after 20 weeks of pregnancy as the observation group, 513 cases of normal pregnancy as a control group . Genetic mutations were detected by DdeI and MnlI restriction endonuclease fragment length polymorphism analysis. Results The frequencies of ATIIIDdeI ++, DdeI + - and DdeI - genotypes in observation group were 51.9%, 27.8% and 20.4% respectively, while those in control group were 66.7%, 25.5% and 7.8% respectively. The AT III DdeI-genotype frequency in observation group was significantly higher than that in control group (34.3%, 20.6%, P <0.01). The relative risk of AT III DdeI-genotype in preeclampsia and eclampsia was 3.025. Factor VLeiden mutation was not observed in the observation group and the control group. Conclusion ATIII gene polymorphism may be related to the occurrence of preeclampsia and eclampsia in Han Chinese women in Guangdong Province, while the mutation of Factor VLeiden has nothing to do with its pathogenesis.