中文摘要：

目的调查结直肠癌患者UGT1A1基因UGT1A1＊28和UGT1A1＊6基因多态性的分布频率。方法收集我院80例结直肠癌患者外周血标本，提取基因组DNA．PCR扩增UGT1A1基因启动子和第1外显子基因片段，直接测序确定基因型。结果80例结直肠癌患者中．UGT1A1六28位点野生型TA6／6为55例（68．75％），杂合突变型TA6／7基因型22例（27．50％），纯和突变型TA7／7有3例（3．75％）；UGT1A1＊6位点突变型211GG基因型57例（71．25％），211GA基因型22例（27．50％），211AA基因型1例（1．25％）。等位基因出现频率分别为TA6为82．50％．TA7为17．50％．211G为85．00％．211A为15．00％。同时携带TA7和211A等位基因共6例（7．50％）。结论结直肠癌患者中UGT1A1＊6和UGT1A1＊28分布频率均较高，在测定UGT1A1基因多态性时应同时检测这两个突变位点。

英文摘要：

Objective To investigate the frequency of UGT1A1 ＊ 28 and UGT1A1 ＊ 6 gene polymorphisms in colorectal cancer patients. Methods UGT1A1 ＊ 28 and UGT1A1 ＊ 6 genetic polymorphism analysis was performed in 80 patients with colorectal cancer. The UTG1A1 promoter region and exon 1 were amplified and direct sequencing. Results Of 80 patients, 55 cases（68.75%） were identified with TA6/6 genotype, 22 cases （27.50%） were heterozygous TA6/7, and 3 cases （3.75%） were the homozygous genotype （TA7/7） ; 57 case s （ 71.25 % ） were 211GG, 22 cases （ 27.50% ） were 211GA, and 1 case （ 1.25 % ） was 211AA. The allelic frequency of TA6 was 82.50%, TA7 was 17.50%, 211G was 85.00%, 211A was 15.00%. 6 cases （7.50%） were identified carrying both the heterozygous genotype UGT1A1 ＊ 28 and UGT1A1 ＊ 6. Conclusion In col- orectal cancer patients, the allelic frequency of UGT1A1 ＊ 6 is equivalent with UGT1A1 ＊ 28. Both of these two mutational sites should be tested when evaluating UGT1A1 genetic polymorphism.