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目的对我院胃癌和结直肠癌等消化道肿瘤常用治疗药物的相关单核苷酸多态性(single nucleotide polymorphisms,SNPs)的特点进行分析。方法抽取消化道肿瘤患者静脉血,采用荧光染色原位杂交检测法对药物相关基因位点进行检测。应用Excel2013对原始数据进行统计分析,并采用SPSS13.0统计软件对每一基因位点的基因型分布进行χ2检验,判断等位基因频率分布是否符合Hardy-Weinberg平衡定律。结果 242例患者共检测了涉及14个药物相关基因的1 743个位点。除二氢嘧啶脱氢酶基因(DPYD)、亚甲基四氢叶酸还原酶基因(MTHFR)、细胞色素P4501B1基因(CYP1B1)外,其他基因位点的基因型分布均符合Hardy-Weinberg平衡定律。结论中国消化道肿瘤患者的药物相关基因单核苷酸多态性的分布特点,因地域和种族的不同,表现出自身的分布特点,应该以其基因多态性进行精准抗肿瘤药物治疗。
Objective To analyze the characteristics of single nucleotide polymorphisms (SNPs) in commonly used drugs for treatment of gastric cancer and colorectal cancer in our hospital. Methods Venous blood was collected from patients with digestive tract tumors, and drug-related gene loci were detected by fluorescence in situ hybridization. Statistical analysis of the raw data was performed using Excel 2013, and SPSS 13.0 statistical software was used to test the genotype distribution of each loci by χ2 test to determine whether the allele frequency distribution conformed to the Hardy-Weinberg equilibrium law. Results A total of 1 743 loci involving 14 drug-related genes were detected in 242 patients. The genotype distributions of other gene loci except for pyrimidine dehydrogenase (DPYD), MTHFR (cytochrome P450B1) and CYP1B1 (gene CYP1B1) all fit Hardy-Weinberg equilibrium. Conclusion The distribution characteristics of single nucleotide polymorphisms of drug-related genes in Chinese patients with gastrointestinal cancer show their own distribution characteristics due to their geographical and ethnic differences. Therefore, they should be treated with precise anti-tumor drugs based on their genetic polymorphisms.