目的调查我国部分地区肿瘤患者UGT1A1*28和UGT1A1*6位点基因多态性分布情况,明确二者在肿瘤患者中分布的差异。方法收集2011年8月—2014年4月山东大学附属临沂市人民医院、临沂市肿瘤医院、兰州大学第一附属医院、西安交通大学第一附属医院、西京医院应用伊立替康治疗的住院肿瘤患者241例,均进行了UGT1A1*28位点基因多态性检测,其中177例同时进行了UGT1A1*6位点基因多态性检测,提取基因组DNA,PCR扩增UGT1A1基因片段,检测UGT1A1*28和UGT1A1*6位点基因型分布。结果 241例检测UGT1A1*28位点基因多态性的患者中,UGT1A1*28位点基因启动子区TA序列呈6次重复的野生型(TA6/6)即野生型纯合子180例(74.7%),TA序列6次和7次重复的杂合突变型(TA6/7)即突变型杂合子56例(23.2%),TA序列7次重复的纯合突变型(TA7/7)即突变型纯合子5例(2.1%);177例检测UGT1A1*6位点基因多态性的患者中,UGT1A1*6位点基因型为野生型(G/G)即野生型纯合子106例(59.9%),杂合突变型(G/A)即突变型杂合子62例(35.0%),纯合突变型(A/A)即突变型纯合子9例(5.1%)。UGT1A1*28和UGT1A1*6位点基因型分布比较,差异有统计学意义(P<0.05)。不同性别、年龄、肿瘤部位、地区来源肿瘤患者UGT1A1*28位点基因型分布比较,差异均无统计学意义(P>0.05)。不同性别、年龄、地区来源肿瘤患者UGT1A1*6位点基因型分布比较,差异均无统计学意义(P>0.05);不同肿瘤部位患者UGT1A1*6位点基因型分布比较,差异有统计学意义(P<0.05)。男性、<40岁、肠道、山东地区、甘肃地区肿瘤患者UGT1A1*28与UGT1A1*6位点基因型分布比较,差异有统计学意义(P<0.05);女性、40~60岁、>60岁、肺部、胃部、其他部位、陕西地区、其他地区肿瘤患者UGT1A1*28与UGT1A1*6位点基因型分布比较,差异无统计学意义(P>0.05)。结论国内肿瘤患者中UGT1A1*28和UGT1A1*6位点基因野生型纯合子频率均较高,但两位点基因型分布有差异,所以研究UGT1A1基因与伊立替康毒副作用时应联合检测UGT1A1*28和UGT1A1*6两个突变位点,并且应同时注意患者的性别、年龄、肿瘤部位及地区来源。 Objective To investigate the distribution of UGT1A1 * 28 and UGT1A1 * 6 loci gene polymorphisms in cancer patients in some areas in China and to find out the differences between the two in cancer patients. Methods The clinical data of patients with in-hospital cancer who were treated with irinotecan in Linyi People’s Hospital Affiliated to Shandong University, Linyi Cancer Hospital, First Affiliated Hospital of Lanzhou University, First Affiliated Hospital of Xi’an Jiaotong University and Xijing Hospital from August 2011 to April 2014 were collected. The polymorphism of UGT1A1 * 28 locus was detected in 241 cases of which UGT1A1 * 28 locus was detected in 177 cases. Genomic DNA was extracted and UGT1A1 gene was amplified by PCR. UGT1A1 * 28 UGT1A1 * 6 locus genotype distribution. Results Among 241 patients with UGT1A1 * 28 locus polymorphism, TA7 in wild type (TA6 / 6) wild type homozygotes of 6 replicates (TAA) in promoter region of UGT1A1 * 28 locus was 180 (74.7% ) (TA6 / 7), ie 56.2% (23.2%) of heterozygous heterozygous mutation (TA7 / 7) with TA sequence repeated at 6 times and 7 times of TA sequence, ie, mutant type The genotypes of UGT1A1 * 6 locus were wild-type (G / G) wild-type homozygotes in 106 cases (59.9%) in 177 cases of UGT1A1 * 6 locus polymorphism, ), 62 (35.0%) heterozygous mutant (G / A) mutant heterozygous, and 9 (5.1%) homozygous mutant (A / A) mutant homozygous. There were significant differences in genotype distribution between UGT1A1 * 28 and UGT1A1 * 6 loci (P <0.05). There was no significant difference in genotype distribution of UGT1A1 * 28 locus among cancer patients of different genders, ages, tumors and regions of origin (P> 0.05). There was no significant difference in genotype distribution of UGT1A1 * 6 loci among cancer patients of different genders, ages and regions (P> 0.05). The genotype distributions of UGT1A1 * 6 loci in different tumor sites were statistically different (P <0.05). The distribution of UGT1A1 * 28 and UGT1A1 * 6 loci in male, <40 years old, intestine, Shandong and Gansu provinces were significantly different (P <0.05). Female, 40-60 years old,> 60 There were no significant differences in genotype distribution between UGT1A1 * 28 and UGT1A1 * 6 loci in patients with lung cancer, lung cancer, stomach cancer, other sites, Shaanxi province and other regions (P> 0.05). Conclusion The frequencies of wild-type homozygotes of UGT1A1 * 28 and UGT1A1 * 6 loci are high in domestic cancer patients, but there are differences in genotype distribution between UGT1A1 loci and loci in UGT1A1 * 6 loci. Therefore, UGT1A1 gene and UGT1A1 * 28 and UGT1A1 * 6 two mutation sites, and should pay attention to the patient’s gender, age, tumor location and regional origin.