【摘要】 目的探讨亚甲基四氢叶酸还原酶(Methylenetetrahydrofolate reductase,MTHFR)基因C677T和A1298C单核苷酸多态性与初产妇合并子痫前期的关系。方法我们收集了150例妊娠合并子痫前期的妇女和150例无疾病的正常妊娠妇女,使用PCR-RFLP法检测MTHFR基因C677T和A1298C多态性。其次,比较患病组A1298C多态性位点呈CC突变基因型的妊娠妇女与对照组A1298C多态性位点呈AA正常基因型的妊娠妇女血浆同型半胱氨酸(Homocysteine,HCy)的水平。结果研究发现只有A1298C的突变基因型CC与子痫前期高风险有关,且基因型频率显著高于对照组(P<0.001)。与颈围<32cm的子痫前期妊娠妇女相比,颈围≥32cm的所有子痫前期妊娠妇女MTHFR基因A1298C位点均呈现突变基因型CC(P<0.001)。患病组A1298C多态性位点呈CC突变基因型的妊娠妇女较对照组A1298C多态性位点呈AA正常基因型的妊娠妇女血浆HCy的水平高(9.21±3.15 vs 7.25±1.77 mmo L/L,P<0.05)。结论 MTHFR基因A1298C位点的突变基因型CC是妊娠妇女子痫前期发病的高风险因子。CC突变基因型与颈围的增加和血浆中HCy水平的升高存在密切联系。更多还原

【Abstract】 Objective:To determine the prevalence of C677 T and A1298 C Single-nucleotide polymorphisms(SNPs)of the MTHFR gene in nulliparous women complicated with preeclampsia(PE). Methods:150 gestations complicated with PE and 150 gestations without the disease were recruited for the genotyping of C677 T and A1298 C polymorphisms of the MTHFR gene using restriction fragment length polymorphism polymerase chain reaction. Secondarily,homocysteine(HCy)plasma levels were measured in preeclamptic women displaying the CC genotype of the A1298 C polymorphism and compared to HCy levels determined among controls with the normal AA genotype for the A1298 C variant. Results:Only the mutant CC genotype of the A1298 C polymorphism was associated to higher risk of presenting PE,as frequency of this genotype was significantly higher among cases than controls(P<0.01). All PE women with a neck circumference ≥32 cm presented the mutant CC A1298 C polymorphism as compared to none among preeclamptics with a lower neck circumference(P<0.001). Women with themutant CC A1298 C SNP displayed higher plasma HCy levels as compared to controls with normal AA A1298 C genotype(9.21±3.15 vs 7.25±1.77 mmo L/L,P<0.05). Conclusion:Prevalence of the CC mutant genotype for the A1298 C polymorphism was higher among PE women. This mutation among PE women was related to increased neck circumference and higher HCy levels.更多还原