【摘要】 目的探讨叶酸代谢的亚甲基四氢叶酸还原酶(MTHFRC677T)基因单核苷酸多态性与直肠癌的关系。方法以聚合酶链反应和限制性片段长度多态方法,分析了56例直肠癌病人和性别、年龄配对的143例正常对照的MTHFRC677T基因型及其对直肠癌的相关性。结果在正常对照中,MTHFRC677TCC、CT、TT基因型频率分别为62.90%、35.08%和2.12%,而在直肠癌病人中分别为58.93%、26.77%和14.26%。MTHFRC677T基因型在病例和对照中的分布差异无显著性意义。结论MTHFRC677T单核苷酸多态可能与直肠癌的遗传易感性无关。更多还原

【Abstract】 Objective To explore the relationship between genetic polymor phisms in methylenetetrahydrofolate reductase(MTHR), a central enzyme in folate metabolism that affects DNA methylation and synthesis, and the risk of colorecta l adenocarcinoma. Methods Genomic DNA was isolated from the peripheral lymphocy tes of 56 patients with colorectal cancer and 143 age and sex matched control su bjects. PCR and PFLP were used to examine the polymorphisms of MTHFR genes C667T and the relation between these genotypes and risk of AGC was analyzed. Results The genotype frequency of MTHFR CC was 62.90%among the controls and was 58.93% among the colorectal cancer patients; The genotype frequency of CT was 35.08% am ong the controls and 26.77% among the colorectal cancer patients,and the genotyp e frequency of TT was 2.12% among the controls and 14.26% among the colorectal c ancer patients. The distribution of MTHFR C677T genotype was not significantly d ifferent between the two groups. Conclusion polymorphism in the MTHFR gene is n ot a risk factor of carcinogenesis of AGC in the Chinese population.更多还原