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目的 研究血透患者N5,N10 亚甲基四氢叶酸还原酶 (MTHFR)基因多态性及血清叶酸、维生素B12 (VitB12 )水平与血浆总同型半胱氨酸 (tHcy)的关系。方法 运用聚合酶链反应 限制性内切酶片断长度多态性技术 (PCR RFLP) ,检测 5 3例血透患者 (HD组 )及 4 0例健康对照组 (C组 )的MTHFR基因多态性 ;用高效液相色谱法和荧光探测仪测定血浆tHcy水平 ;用免疫化学发光法测定血清叶酸、VitB12 水平。结果 (1)MTHFR基因型有 3种 ,纯合子突变型 (+/ +)、杂合子突变型(+/ - )、正常型 (- / - )。HD组中 (+/ +)型频率为 30 2 % ,(+/ - )型频率为 4 5 3% ,(- / - )型频率为 2 4 5 % ,T等位基因频率为 5 2 8% ,基因型分布和等位基因频率与C组比较差异无显著性。 (2 )HD组中 98%的患者存在着高Hcy (>15 0 μmol/L)血症 ,平均血浆tHcy水平显著高于C组 (38 6 8μmol/L对 15 4 7μmol/L ,P <0 0 1)。 (3)HD组中 (+/ +)型平均血浆tHcy水平高于 (- / - )型 (45 32μmol/L对 2 8 4 4 μmol/L) ,两者差异具有显著性 (P =0 0 38)。 (4)HD组血清叶酸、VitB12 均与血浆tHcy水平呈负相关 (r=- 0 377,P =0 0 0 5 ;r =- 0 311,P =0 0 2 3)。结论 血透患者血浆tHcy水平升高不仅与患者尿毒症时对其清除及代谢障碍有关 ,?
Objective To investigate the association of N5, N10 methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and serum levels of folic acid and vitamin B12 (VitB12) with plasma total homocysteine (tHcy) in hemodialysis patients. Methods Polymerase chain reaction restriction fragment length polymorphism (PCR RFLP) was used to detect MTHFR gene polymorphism in 53 hemodialysis patients (HD group) and 40 healthy controls (C group) Plasma tHcy levels were measured by HPLC and fluorescence detector. Serum folic acid and VitB12 levels were measured by immunochemiluminescence. Results (1) There were 3 genotypes of MTHFR, homozygous mutant (+ / +), heterozygous mutant (+ / -) and normal type (- / -). The frequency of (+ / +) type was (40 +/- 2)% in type HD group (45 +/- 5%), the frequency of (+/-) type was 24.5%, and the frequency of T allele %, Genotype distribution and allele frequency compared with the C group no significant difference. (2) High Hcy (> 150 μmol / L) hyperlipidemia occurred in 98% of patients in HD group, and the average plasma tHcy level was significantly higher in group HD than in group C (38 6 8μmol / L vs 154.7μmol / L, P < 0 1). (3) The mean plasma tHcy level in (+ / +) type HD group was higher than that in (- / -) type (45 32 μmol / L vs 2 844 μmol / L) 38). (4) Serum folic acid and VitB12 in HD group were negatively correlated with plasma tHcy levels (r = - 0 377, P = 0 0 05; r = - 0 311, P = 0 0 2 3). Conclusion The elevated plasma tHcy level in hemodialysis patients is not only related to its clearance and metabolic disorders in patients with uremia.