老年PAOD同型半胱氨酸代谢相关酶基因突变频率的研究

目的:探讨亚甲基四氢叶酸还原酶(MTHFR)基因C677T、胱硫醚β合成酶(CBS)基因844ins68、甲 硫氨基合成酶(MS)基因A2756G三种同型半胱氨酸(Hcy)代谢相关酶基因突变在北京社区汉族老年周围动脉闭 塞性疾病(PAOD)发病中的意义。方法:PCR扩增老年PAOD83例及100例老年健康对照的MTHFR、CBS、MS基 因突变点,直接或经限制性内切酶消化后行凝胶电泳确定基因型。结果:老年PAOD病例组MTHFR基因中,T/T基 因型占34.9%,明显高于老年健康对照组的19%(P<0.01);C/C占13.3%,明显低于老年健康对照组的31% (P<0.01);C/T与老年健康对照组无明显差异(P>0.05)。老年PAOD病例组MTHFR等位基因T突变位点的频 率占60.8%,明显高于老年健康对照组的44%(P<0.01)。CBS844ins68、MSA2756G各种基因型频率和等位基因 频率在老年PAOD病例组和老年健康对照组之间无差异。结论:在北京社区汉族老年人群中,MTHFR等位基因 C677T突变可能是老年PAOD独立的遗传性危险因子,而CBS基因844ins68、MS基因A2756G的突变可能不足以 成为遗传危险性。

Study on homocysteine metabolism related enzymes gene mutations in elderly patients with peripheral arterial occlusive disease

Objective:To explore the significance of gene mutations of Methylenetetrahydrofolate reductase (MTHFR), cystathionine beta-synthase (CBS) and methione synthase (MS) in elderly patients with peripheral arterial occlusive disease (PAOD) , and analyze the relation between them. Methods:The genotypes of MTHFR, CBS, MS were determined by PCR-based assay in 83 patients with PAOD (PAOD group) and 100 healthy controls (NC group) in elderly people. RESULTS: The frequencies of T/T genotype (homozygous mutant) of MTHFR were 19%; C/C (homozygous normal), 31% in NC group and T/T, 34.9%; C/C 13.3% in POAD group respectively. The frequencies of allele T of MTHFR were 44% in NC group; 60.8% in POAD group respectively. The frequencies of homozygous T/T and allele T of MTHFR in POAD group were significantly higher than those in NC. There were no obvious differences in the frequencies of CBS, MS gene mutations between the PAOD and NC group. Conclusion:The C677T mutation in MTHFR gene is associated with the risk to peripheral arterial occlusive disease in elderly people of Beijing community.