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[亚甲基四氢叶酸还原酶基因多态性与不明原因复发性自然流产关系的研究]

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

作者信息

Li Xiao-mei, Zhang You-zhong, Xu Yan-xue, Jiang Sen

机构信息

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

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Feb;21(1):39-42.

Abstract

OBJECTIVE

To assess the relationship of methylenetetrahydrofolate reductase (MTHFR) C677T genotypes to unexplained recurrent spontaneous abortion (URSA).

METHODS

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).

RESULTS

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".

CONCLUSION

MTHFR C677T gene polymorphism is a genetic risk factor for URSA.

摘要

目的

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。

方法

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。

结果

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”。

结论

MTHFR C677T基因多态性是URSA的一个遗传危险因素。

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