摘要
目的探讨内皮型一氧化氮合酶(eNOS)基因第7外显子G894T突变和N5,N10-亚甲基四氢叶酸还原酶(MTHFR)基因C677T突变与子痫前期的关系。方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术,对53例子痫前期患者(子痫前期组)和49例正常妊娠妇女(对照组)的eNOS基因G894T突变和MTHFR基因C677T突变进行检测。结果子痫前期组eNOS基因Glu/Glu、Glu/Asp、Asp/Asp基因型频率分别为71.7%、28.3%、0.0%;MTH-FR基因CC、CT、TT基因型频率分别为22.7%、39.6%、37.7%。对照组eNOS基因Glu/Glu、Glu/Asp、Asp/Asp基因型频率分别为83.7%、16.3%、0.0%;MTHFR基因CC、CT、TT基因型频率分别为20.4%、61.2%、18.4%。子痫前期患者TT基因型频率(37.7%)显著高于对照组(18.4%)(P<0.05),而CT基因型频率子痫前期组(39.6%)显著低于对照组(61.2%)(P<0.05),而eNOS基因型和等位基因频率两组比较差异均无显著性(P>0.05)。携带TT基因型个体发生子痫前期的风险增加2.69。结论eNOS基因G894T突变与子痫前期发病无关;MTHFR基因TT基因型能增加子痫前期的患病风险;eNOS基因和MTHFR基因在子痫前期发病中无协同作用。
Objective： To investigate a potential association of the gene polymorphisms of endothelial nitric oxide synthase （eNOS） and methylenetetraphydrofolate reductase （MTHFR） gene with preeclampsia. Methods： The eNOS gene G894T and MTHFR gene C677T polymorphisms were determined by PCR - RFLP in 53 preeclampsia patients and 49 normal pregnant women. Odds ratios （OR） and 95% CI, using Miettinen methods, were obtained to evaluate the association between the polymorphisms and preeclampsia. Results： The frequencies of eNOS Glu/Glu, Glu/Asp and Asp/Asp genotypes were 71.7% , 28. 3% and 0. 0% in preeclampsia group and 83.7%, 16. 3%, and 0. 0% in normal control group, respectively （ P 〉0. 05）. The frequencies of MTHFR C/C, C/T and T/T genotypes were 22.7%, 39.6%, 37.7% in preeclampsia group and 20. 4%, 61.2%, 18.4% in normal control group, respectively （ P 〈 0. 05）. The frequency of the T/T genotype （37. 7% ） of MTHFR gene in preeclampsia group was markedly higher than those （ 18.4% ） in normal control group （ P 〈 0.05 ）, but the frequency C/T genotype （39. 6% ） of MTHFR gene in preeclampsia group was markedly lower than those （61.2%） in the contral group （ P 〈 0. 05）, and there were no differences in the alleles for eNOS gene and MTHFR gene in two groups （ P 〉0.05）. The individuals with T/T genotype was 2. 69 times susceptible to preeclampsia than the normal controls. Conclusion ： These data suggest that the eNOS G894T polymorphism is not associated with a significant increased risk of preeclampsia. The T/T genotype of the MTHFR gene may increase the risk of preeclampsia, but the eNOS and MTHFR gene do not appear to be implicated for developing preeclampsia.
出处
《中国优生与遗传杂志》
2007年第11期21-23,15,共4页
Chinese Journal of Birth Health & Heredity
基金
青岛市科技发展计划项目:N0:1996-53
