Li Xiao-mei, Zhang You-zhong, Xu Yan-xue, Jiang Sen
Department of Obstetric and Gynecology, Qilu Hospital, Shandong University, Jinan, Shandong, PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Feb;21(1):39-42.
To assess the relationship of methylenetetrahydrofolate reductase (MTHFR) C677T genotypes to unexplained recurrent spontaneous abortion (URSA).
This study included two groups:57 currently non-pregnant women with a history of URSA (URSA group), and 50 currently non-pregnant women with a history of having given birth to at least one live baby and without any history of spontaneous abortion, still-born fetus, placental thrombosis and intrauterine growth retardation(IUGR)(control group). The fasting serum-Hcy was measured with high pressure liquid chromatography. Folic acid and vitamin B(12) were detected by radioimmune assay; antiphospholipid antibody (ACA) was detected by ELISA. MTHFR C677T gene polymorphisms were detected by the technique of polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
C/C genotype in URSA group was significantly lower than that in control group, the total mutant T allele frequency was significantly higher than that in control group. There was no significant difference in respect of "age, rural area/city, period, primary/secondary abortion" between the genotype distributions of MTHFR C677T. The T/T genotype and C/T+T/T genotypes frequencies for "abortion times>or=3" were higher than those for "abortion time <3".
MTHFR C677T gene polymorphism is a genetic risk factor for URSA.
评估亚甲基四氢叶酸还原酶（MTHFR）C677T基因多态性与不明原因复发性自然流产（URSA）的关系。
本研究包括两组：57例目前未怀孕但有URSA病史的妇女（URSA组），以及50例目前未怀孕、有至少一次活产史且无自然流产、死胎、胎盘血栓形成及胎儿宫内生长受限（IUGR）病史的妇女（对照组）。采用高压液相色谱法测定空腹血清同型半胱氨酸（Hcy）。用放射免疫分析法检测叶酸和维生素B12；用酶联免疫吸附测定法检测抗磷脂抗体（ACA）。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术检测MTHFR C677T基因多态性。
URSA组C/C基因型显著低于对照组，总突变T等位基因频率显著高于对照组。MTHFR C677T基因型分布在“年龄、农村/城市、时期、原发性/继发性流产”方面无显著差异。“流产次数≥3次”的T/T基因型和C/T+T/T基因型频率高于“流产次数<3次”。
MTHFR C677T基因多态性是URSA的一个遗传危险因素。
