为探讨国内血液透析病人血浆总同型半胱氨酸(tHCY)水平及其影响因素，以及与N2，N10-亚甲基四氢叶酸还原酶(MTHFR)基因的关系。方法 分别采用高效液相(HPLC)法和聚合酶链反应-限制性片段长多态性(PCR-RFLP)法检测血液透析病人在透析前后血浆tHCY水平和MTHFR基因型，及血液透析的相关指标。结果 血液透析病人血浆tHCY水平为(32.0±8.5)μmol/L，明显高于正常对照组(P＜0.01)；血液透析对tHCY的清除率为(19.8±6.2)%；MTHFR基因第677位点C/C正常纯合者占75%(12/16)，C/T杂合突变者占25%(4/16)，未发现T/T纯合突变者；C/T杂合突变组血浆tHCY水平为(34.3±4.2)μmol/L，C/C正常纯合组为(28.4±5.8)μmol/L，两组比较差异无显著性；血浆tHCY水平与血浆白蛋白水平呈正相关(r＝0.60)。结论 本研究结果提示血液透析病人血浆tHCY水平升高，血液透析对同型半胱氨酸有一定的清除作用。血液透析病人MTHFR基因C677T突变与高同型半胱氨酸血症的关系有待进一步证实。%Objective In order to investigate plasma total homocysteine(tHCY)level,its influential factors,and the relationship between total homocysteine(tHCY)and N5,N10-methylenetetrahydrofolate reductase(MTHFR) gene in hemodialysis patients.Method Pre-and posthemodialysis plasma tHCY and MTHFR genotype were measured by high performance liquid chromatography(HPLC) method and polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) method respectively,and dialysis related indexes were detected simultaneously.Results Plasma tHCY in hemodialysis patients was(28.4±5.8)μmol/L，and it was significantly higher than normal control(P＜0.01);the clearance rate of homocysteine by hemodialysis was(19.8±6.2)%. MTHFR gene situs 677 C/C normal homozygosis accounted for 75%(12/16),C/T heterozygosis 25%(4/16),and no T/T homozygosis was found;plasma tHCY was(34.3±4.2)μmol/L in C/T heterozygosis group,and (28.4±5.8)μmol/L in C/C normal homozygosis group,no significantly difference was found between the two groups; There was a positive correlation between plasma tHCY and plasma albumin(r＝0.60). Conclusions plasma tHCY level in hemodialysis patients was elevated,and homocysteine could be removed by hemodialysis. The relationship between mutationC677T in MTHFR gene and hyperhomocysteinaemia to be confirmed further in hemodialysis patients.
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