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[Study on the relationship of MTHFR polymorphisms with unexplained recurrent spontaneous abortion].

[Article in Chinese]

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Department of Obstetric and Gynecology, Qilu Hospital, Shandong University, Jinan, Shandong, PR China.



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.

[Indexed for MEDLINE]

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