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目的：测定我国健康人与结直肠癌患者尿苷二磷酸葡萄糖醛酸转移酶（ UGT）1A1和UGT2B7基因多态性分布及UGT1A1和UGT2B7基因多态性与结直肠癌的相关性。方法提取335例健康受试者和348例结直肠癌患者血样标本的DNA，确定UGT1A1和UGT2B7基因型，研究UGT1A1和UGT2B7基因多态性分布与结直肠癌的相关性。结果健康受试者和结直肠癌患者的UGT1A1*6基因突变频率分别为8.07%和16.52%，有极显著性差异（ P ﹤0.001），OR值（95%CI）为3.34（2.12~6.72）；健康受试者组和结直肠癌患者组UGT1A1*28的基因突变频率分别为7.32%和11.50%，有显著性差异（ P ﹤0.05），OR值（95%CI）为1.73（1.21~1.84）；表明 UGT1A1*28基因变异与结直肠癌有一定关联；UGT2B7-1和UGT2B7-2的基因突变频率两组比较均无显著性差异。结论 UGT1A1*6和 UGT1A1*28基因变异与结直肠癌相关联， UGT1A1*6基因变异可能增加结直肠癌的发病风险，是结直肠癌高危易感基因。“,”Objective To study the allelic frequency of UGT1A1 and UGT2B7 genes,and the relationship be-tween the mutations of UGT1A1 and UGT2B7 genes and colorectal cancer. Methods The DNA of blood sampls from 335 healthy subjects and 348 cases of colorectal cancer was extracted to determine the allelic frequency of the UGT1A1 and UGT2B7 mutant. Results The mutative frequency of UGT1A1*6 was 8. 07% in healthy subjects and 16. 52% in patients with colorectal cancer respectively,being significantly different( P ﹤0. 001,OR= 3. 34,95%CI:2. 12-6. 72). The muta-tive frequency of UGT1A1*28 was 7. 32% in healthy subjects and 11. 50% in patients with colorectal cancer respective-ly,also with significant difference( P =0. 011,OR=1. 73,95%CI:1. 21-1. 84). The mutative frequency of UGT2B7-1 and UGT2B7-2 was not significanthy different between healthy subjects and patients with colorectal cancer. Conclusion The gene mutation of UGT1A1*6 and UGT1A1*28 was related to colorectal cancer. The gene mutation of the UGT1A1*6may increase the risk of colorectal cancer,and UGT1A1*6 gene might be the high-risk predisposing gene of colorectal cancer.