论文部分内容阅读
目的探讨亚甲基四氢叶酸还原酶(MTHFR)基因 C677T突变、凝血因子 V(FV)基因G1691A 突变和凝血酶原(PT)基因 G20210A 突变与原因不明复发性早期流产(URESA)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)技术分析112例 URESA 患者(病例组)和100例健康妇女(对照组)MTHFR、FV 和 PT 3种基因多态性。结果 (1)MTHFR 基因的 T/T基因型和 T 等位基因频率,病例组[分别为38.4%(43/112)和59.8%(134/224)]高于对照组[分别为18.0%(18/100)和43.0%(86/200)],两组分别比较,差异均有统计学意义(P<0.01)。病例组与对照组比较,T/T 基因型者发生 URESA 的相对风险增加(OR=2.8390,95% CI 为1.5022～5.3661)。(2)病例组和对照组妇女 FV 基因和 PT 基因均为 G/G 基因型(即正常带型)。结论 MTHFR 基因C677T 位点多态性与 URESA 发病密切相关,T/T 基因型是其发病的危险因素。FV 和 PT 基因的突变率在中国妇女人群中极低。
Objective To investigate the relationship between MTHFR C677T mutation, coagulation factor V (FV) gene G1691A mutation and prothrombin (PT) gene G20210A mutation and unexplained recurrent spontaneous abortion (URESA). Methods The polymorphisms of MTHFR, FV and PT in 112 patients with URESA (case group) and 100 healthy women (control group) were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results (1) The frequencies of T / T genotype and T allele of MTHFR gene were higher in case group (38.4% (43/112) and 59.8% (134/224) respectively) than those in control group (18.0% 18/100) and 43.0% (86/200) respectively. There were significant differences between the two groups (P <0.01). Compared with the control group, the relative risk of URESA in T / T genotype increased (OR = 2.8390, 95% CI: 1.5022-5.3661). (2) FV and PT genes in case group and control group were G / G genotype (ie, normal banding). Conclusion The C677T polymorphism of MTHFR gene is closely related to the pathogenesis of URESA. The T / T genotype is a risk factor for its occurrence. The mutation rates of FV and PT genes are extremely low among Chinese women.