论文部分内容阅读
目的:探讨N5,10-亚甲基四氢叶酸还原酶(MTHFR)基因及内皮型一氧化氮合酶(eNOS)基因多态性与广东籍汉族妇女子痫前期和子痫发病的关系。方法:567例广东籍汉族妇女中54例诊断为子痫前期或子痫,513例为正常妊娠(对照组)。应用PCR-RFLP方法,检测567例早孕期妇女外周血MTHFR基因C677T突变和eNOS基因G894T突变,计算各基因型的相对风险率。结果:子痫前期和子痫组MTHFR C/C、C/T及T/T基因型频率分别为59.2%、20.4%及20.4%,其中T/T基因型频率显著高于对照组(5.5%)(P<0.001),并且T等位基因频率为30.6%,显著高于对照组(20.5%)(P<0.05),T/T基因型在子痫前期或子痫发病中的相对风险率为4.431。子痫前期和子痫组的eNOS基因频率与对照组无显著差异。结论:广东籍汉族妇女MTHFR基因C677T多态性可能与子痫前期或子痫发病的易感性相关,eNOS基因G894T多态性与子痫前期或子痫发病的易感性无关。
Objective: To investigate the relationship between N5, 10-methylenetetrahydrofolate reductase (MTHFR) gene and endothelial nitric oxide synthase (eNOS) gene polymorphisms and the pathogenesis of preeclampsia and eclampsia in Han nationality in Guangdong. Methods: 54 cases of 567 Han women of Guangdong were diagnosed as preeclampsia or eclampsia, and 513 cases were normal pregnancy (control group). The PCR-RFLP method was used to detect the MTHFR gene C677T mutation and eNOS gene G894T mutation in 567 early pregnancy women. The relative risk of each genotype was calculated. Results: The frequencies of MTHFR C / C, C / T and T / T genotypes in preeclampsia and eclampsia were 59.2%, 20.4% and 20.4%, respectively. The frequency of T / T genotype was significantly higher than that in control group (P <0.001), and the frequency of T allele was 30.6%, which was significantly higher than that of the control group (20.5%) (P <0.05). The relative risk of T / T genotype in preeclampsia or eclampsia was 4.431. The frequency of eNOS gene in preeclampsia and eclampsia group was not significantly different from that in control group. Conclusion: The C677T polymorphism of MTHFR gene in Han nationality women in Guangdong may be related to the susceptibility to preeclampsia or eclampsia. The polymorphism of eNOS gene G894T is not associated with the susceptibility to preeclampsia or eclampsia.