【摘要】 目的 探讨亚甲基四氢叶酸还原酶(MTHFR)基因rs1801131多态性与青海汉族妊娠期高血压疾病(HDCP)的相关性。方法 应用限制性片段长度多态性聚合酶链反应(PCR-RFLP),对120例HDCP孕产妇(HDCP组)和120例正常妊娠妇女(对照组)的MTHFR rs1801131进行多态性检测并测序验证。结果 HDCP组MTHFR基因AA、AC、CC基因型频率分别为56.67%、32.50%、10.83%,对照组分别为74.17%、23.33%、2.50%(P<0.05,两组基因型分布有差异)。HDCP组AA基因型频率(56.67%)低于对照组(74.17%,P<0.05),CC基因型频率HDCP组(10.83%)高于对照组(2.50%,P<0.05),而AC基因型频率HDCP组与对照组之间差异无统计学意义(P>0.05)。HDCP组和对照组MTHFR rs1801131多态性等位基因频率分布有显著差异(P<0.001),HDCP组C等位基因频率明显高于对照组(χ~2=12.229,OR=1.574,95%CI=1.181～2.099,P<0.001)。结论 MTHFR rs1801131多态性与青海汉族HDCP的发生相关，C基因可能是HDCP的易感基因，CC基因型可能是HDCP的易感基因型。更多还原

【Abstract】 Objective To investigate the correlation between the polymorphism of 5,10-methylenetetrahydrofolate reductase(MTHFR) gene rs1801131 and hypertensive disorders complicating pregnancy(HDCP) in Qinghai Han nationality. Methods The polymorphism of MTHFR rs1801131 in 120 pregnant women with HDCP(HDCP group) and 120 normal pregnant women(control group) were detected by restriction fragment length polymorphism polymerase chain reaction(PCR-RFLP) and verified by sequencing. Results The frequencies of AA, AC, and CC genotype of MTHFR gene in the HDCP group were 56.67%, 32.50%, and 10.83% respectively, and those in the control group were 74.17%, 23.33% and 2.50% respectively(P<0.05, the distribution of genotype was different significantly between the two groups). The frequency of AA genotype of HDCP group(56.67%) was lower than that of control group(74.17%, P<0.05), the frequency of CC genotype of HDCP group(10.83%) was higher than that of control group(2.50%, P<0.05), while there was no significant difference in the frequency of AC genotype between HDCP group and control group(P<0.05). The frequency distribution of alleles A and C of MTHFR rs1801131 polymorphism was significantly different between the HDCP group and the control group(P<0.001), and the frequency of allele C in the HDCP group was significantly higher than that in the control group(χ~2=12.229, OR=1.574, 95% CI=1.181-2.099, P<0.001). Conclusion The polymorphism of MTHFR rs1801131 is related to the occurrence of HDCP in Qinghai Han population. The C gene might be the susceptibility gene of HDCP, and CC genotype might be the susceptibility genotype of HDCP.更多还原