MTHFR C677T多态性、血浆Hcy及青年肝静脉型布-加综合征的相关性研究

目的研究5,10-亚甲基四氢叶酸还原酶(MTHFR)C677T基因多态性、血浆高同型半胱氨酸(Hcy)及青年肝静脉型布-加综合征(BCS)的相关性。方法研究组青年肝静脉型BCS患者60例,对照组为健康志愿者60名,免疫荧光法测空腹血浆Hcy浓度。全血提取DNA基因组,聚合酶链反应-限制性内切酶片段长度多态性技术(PCR-RFLP)检测MTHFR基因第677位点基因多态性。结果 BCS组血浆Hcy浓度为(20.38±8.40)μmol/L,MTHFR 677位点多态性纯合子(TT型)突变率为35.0%(21/60),明显高与对照组的(16.64±5.16)μmol/L和16.7%(10/60),两组间差异均有统计学意义(P=0.001,P=0.03)。结论青年肝静脉型BCS血浆存在高Hcy浓度状态,MTHFR C677T基因的纯合子突变与高Hcy血症有相关性。

Correlation of MTHFR C677T gene polymorphism plasma and Hcy levels in young patients with hepatic vein obstruction

Objective To investigate the relationship between the methylenetetrahydrofolic acid reductase(MTHFR) C677T gene polymorphisms and plasma homocysteine(Hcy) level in young patients with Budd-Chiari syndrome(BCS) complicated by hepatic vein obstruction.Methods Sixty young patients of BCS with hepatic vein obstruction were collected as study group,while other 60 healthy volunteers were enrolled in this study as control group.Laboratory tests were examined in all subjects.Serum homocysteine was measured by fluorescence polarization immunoassay.Genomic DNA was extracted from whole blood and the MTHFR C677T gene polymorphism was analyzed by combination of polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP).The results were analyzed and compared between the two groups.Results In the study group,the serum homocysteine level was(20.38 ± 8.40)μmol/L and homozygous mutation(T/T) of MTHFR C677T was 35.0%(21/60).In the control group,the serum homocysteine level was(16.64 ± 5.16) μmol/L and homozygous mutation(T/T) of MTHFR C677T was 16.7%(10/60).The differences in both serum homocysteine level and homozygous mutation between the two groups were statistically significant(P = 0.001 and P = 0.03,respectively).Conclusion In young patients of BCS with hepatic vein obstruction,the Hcy level of plasma is in a high concentration state,and the high Hcy level bears a close relationship to the homozygous MTHFR C677T gene mutation.(J Intervent Radiol,2012,21: 62-65)