叶酸代谢酶基因多态性与反复自然性流产易感性的研究

The role of folate metabolism related enzymes gene polymorphisms on recurrent early spontaneous abortion

目的探讨叶酸代谢相关酶基因多态性在不明原因反复自然流产遗传易感性中的作用地位。方法运用聚合酶链反应-限制性片段长度多态性技术(PCR-RFLP)检测蛋氨酸合成酶还原酶(MTRR)A66G,蛋氨酸合成酶(MS)A2756G,N5,10-亚甲基四氢叶酸还原酶(MTHFR)C677T,胱硫醚β-合成酶(CBβS)844 ins68基因多态性。结果不明原因反复自然流产患者MTHFR的T等位基因突变频率较正常对照组明显升高。而MS、MTRR和CBβS突变频率在病例组与对照组之间无显著差异。结论MTHFR C677T基因突变多态性可作为不明原因反复自然流产预后的检测指标。

Objective： To assess the role of methylenetetrahydrofolate reductase （MTHFR） C677T, methioninesynthase reductase （MTRR） A66G, methionine synthase （MS） A2756G, and cystathionineβsynthase （CBβS） genotypes on unexplained recurrent spontaneous abortion （URSA）. Methods： MTHFR C677T, MTRR A66G, MS A2756G and CBβS 844ins68 gene polymorphisms were detected by the technique of polymerase chain reaction - restriction fragment length polymorphism （ PCR - RFLP）. Result： The total mutant T allele frequency of MTHFR gene in the patients with unexplained recurrent spontaneous abortion was significantly higher than that in control group, whereas the mutation rates of MS, MTRR and CBβS had no statistically defferences between the two groups. Conclusion： MTHFR C677T gene polymorphism is a genetic marker for URSA.