潘欣,殷家福,高杰,孔树佳
PAN Xin,YIN Jiafu,GAO Jie,KONG Shujia

• 1:云南省肿瘤医院药剂科

摘要(Abstract)：

目的:探究尿苷二磷酸葡萄糖醛酸转移酶1A1基因(UGT1A1*6)和溶质载体有机阴离子转运蛋白家族成员1B1基因[SLCO1B1(388A>G)]在云南省汉族肿瘤患者中的分布情况。方法:收集122例云南省汉族肿瘤患者外周血,采用数字荧光分子杂交技术对UGT1A1*6和SLCO1B1(388A>G)进行基因分型,统计基因型频率和等位基因频率,分析不同临床特征间的基因型分布差异及不同人群间的基因型分布差异。结果:UGT1A1*6基因分型位点的基因型分为野生型GG、突变杂合子GA及突变纯合子AA,SLCO1B1(388A>G)基因分型位点的基因型分为野生型AA、突变杂合子AG及突变纯合子GG;在云南汉族肿瘤患者中,UGT1A1*6和SLCO1B1(388A>G)两个基因位点的突变频率较高,UGT1A1*6等位基因的频率为G (77.87%)和A (22.13%),SLCO1B1(388A>G)等位基因的频率为A(27.05%)和G(72.95%);云南汉族肿瘤患者的UGT1A1*6和SLCO1B1(388A>G)基因型频率在性别、年龄、不同肿瘤部位及与其他肿瘤患者的分布差异均无统计学意义(P>0.05)。结论:云南省汉族肿瘤患者UGT1A1*6和SLCO1B1(388A>G)两个基因位点的突变频率较高,与部分临床特征无关。
Objective: To investigate the genotype distribution of uridine diphosphate glucuronyl transferase 1A1 gene UGT1A1*6 and solute carrier organic anion transporter family member 1B1 gene SLCO1B1(388 A>G) in tumor patients in Yunnan Han nationality. Methods: 122 carcinoma patients of Yunnan Han nationality were included in this study, peripheral blood was collected, and digital fluorescence molecular hybridization assay was used for genotyping UGT1A1*6 and SLCO1B1(388 A>G). The allelic and genotypic frequencies were calculated. The genotype distribution differences among different clinical features and genotype distribution differences among different groups of people. Results: Genotype of gene type site of UGT1A1*6 were wild type GG, mutation heterozygote GA and mutation heterozygote AA; genotype of gene type site of SLCO1B1(388 A>G) were wild type AA, mutation heterozygote AG and mutation homozygote GG. In tumor patients of Yunnan Han nationality, mutation frequency of both UGT1A1*6 and SLCO1B1(388 A>G) genotypes were relatively high, UGT1A1*6 allele frequency was G(77.87%) and A(22.13%),SLCO1B1(388 A>G) allele frequency was A(27.05%) and G(72.95%). There was no significant difference in the distribution of UGT1A1*6 and SLCO1B1(388 A>G) genotypes among cancer patients in Yunnan Han population compared with other patients in terms of gender, age, different tumor location(P>0.05). Conclusion: Mutation frequency of UGT1A1*6 and SLCO1B1(388 A>G) in Yunnan Han patients with tumors is relatively high.

关键词(KeyWords)： 肿瘤;基因多态性;汉族;尿苷二磷酸葡萄糖醛酸转移酶1A1基因;溶质载体有机阴离子转运蛋白家族成员1B1基因;云南
tumor;gene polymorphism;Han nationality;uridine diphosphate glucuronyl transferase 1A1 gene;solute carrier organic anion transporter family member 1B1 gene;Yunnan

Abstract:

Keywords:

基金项目(Foundation): 云南省教育厅科学研究项目(2015Y155)

作者(Author): 潘欣,殷家福,高杰,孔树佳
PAN Xin,YIN Jiafu,GAO Jie,KONG Shujia

DOI: 10.19367/j.cnki.1000-2707.2019.09.014

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