育龄女性MTHFR基因多态性检测的临床意义

Clinical Significance of MTHFR Gene Polymorphism in Childbearing Age Woman

目的:通过检测育龄女性外周血中叶酸代谢关键酶5,10-亚甲基四氢叶酸还原酶MTHFR C677T的基因多态性、同型半胱氨酸HCY以及D-二聚体,分析MTHFR C677T基因多态性与HCY、D-二聚体的关系。方法:选取孕前或孕期育龄女性100名,基因芯片法检测外周血中MTHFR C677T的基因多态性,循环酶法检测外周血中HCY、D-二聚体水平。结果:本地区育龄妇女中MTHFR C677T基因CC型、CT型、TT型的检出频率分别为26%、54%、20%;CC型、CT型、TT型受试者HCY水平分别为(9.5±3.4)μmol/L、(11.8±3.1)μmol/L、(15.3±3.5)μmol/L,CT型、TT型受试者HCY水平要高于CC型受试者(P<0.05);CC型、CT型、TT型受试者D-二聚体水平分别为(176.5±80.5)μg/L、(221.1±91.2)μg/L、(242.1±90.3)μg/L,CT型、TT型受试者D-二聚体水平要高于CC型受试者(P<0.05)。结论:MTHFR C677T基因突变可以引起高HCY血症,使机体处于一种高凝状态,进而增加婴幼儿的出生缺陷率。

Objective To detect the gene polymorphism, homocysteine （HCY） and D-dimer （ DD ） levels of 5, 10-methylenetetrahydrofolate reductase（MTHFR） C677T,which was the key enzyme of folic acid metabolism in peripheral blood of childbearing age women, and to analyze the relationship between gene polymorphism and HCY, DD levels. Methods The Peripheral blood was taken from 100 progestation or pregnant women. Gene chip method was used to detect the polymorphism, and cyclophorase assay was used to detecte the levels of HCY and DD in blood samples. Results The detective rates of CC, CT and TT genotype was 26% ,54% and 20% ,respectively. Meanwhile,the HCY levels of objects with CC, CT and TT genotype was 9.5 ± 3.4,11.8 ± 3.1 and 15.3± 3.5 μmoL/L, respectively. The HCY levels of objects with CT and TT genotype were higher than that of CC genotype（ P 〈 0.05 ）. The DD levels of objects with CC, CT and TT genotype was 176.5 ±80. 5,221.1±91.2,242.1 ±90.3 μg/L,respeetively. The DD levels of objects with CT and TT genotype were higher than that of CC genotype（P 〈 0.05）. Conclusion MTHFR C677T genetic mutation could contribute to high HCY levels and hypercoagulable state, resulting in a increased incidence of birth defects.