安徽地区汉族人群肿瘤患者UGT1A1~* 6基因多态性分布的差异性研究

Study on UGT1A1~* 6 gene polymorphisms in cancer patients of Han population in Anhui area

目的 研究安徽地区汉族人群肿瘤患者UGT1A1*6基因多态性分布情况。方法 选取来自安徽省不同区域222例汉族肿瘤患者血液样本,采用原位杂交荧光染色分析技术检测患者UGT1A1*6基因型。结果 222例汉族肿瘤患者UGT1A1*6基因型具体分布情况为:UGT1A1*6野生型(GG)159例次,占总例次71.62%;突变杂合型(GA)52例次,占总例次23.42%;突变纯合型(AA)11例次,占总例次4.96%。UGT1A1*6突变率为16.67%,且在食道癌患者中该基因突变率为43.75%,在马鞍山及滁州地区患者中基因突变率分别为40.01%和34.62%,均明显高于其他部位肿瘤及地区患者水平(P<0.05)。结论 安徽地区汉族人群肿瘤患者UGT1A1*6突变频率较高,通过UGT1A1*6基因分型,可以预测伊立替康不良反应发生风险,为实施伊立替康个体化治疗提供用药参考。

Aim To investigate the gene frequency of UGT1 A1＊ 6 in cancer patients in Anhui Han population. Methods The 222 cases of blood samples ofHan cancer patients were collected from different regions of Anhui province,and the UGT1 A1 ＊ 6 genotypes were detected by in situ hybridization fluorescencestaining. Results Patients with a UGT1 A1 ＊ 6 wild type（GG） accounted for（159 cases,71. 62%）,which were higher than those of heterozygous mutations（GA,52 cases,23. 42%） and of homozygous mutations（AA,11 cases,4. 96%） of the total cases. The mutation rate of UGT1 A1＊ 6 was 16. 67%,and particularly in patients with esophageal cancer it was43. 75%. The rates of mutation in the patients in Ma ＇anshan and Chuzhou were 40. 01% and 34. 62%,respectively,both significantly higher than those of othertumors and regions. Conclusions Cancer patients in Anhui Han population have a high mutant frequency of UGT1 A1＊ 6. The UGT1 A1 ＊ 6 genotyping can indirectly predict the risk of irinotecan＇s adverse reaction,which obviously enhances the potentially individualized treatment of irinotecan.