【摘要】 目的探讨基因多态性检测在5-氟尿嘧啶临床治疗效应评价中的作用。方法收集1例胃癌患者用5-氟尿嘧啶治疗后的临床疗效和药物不良反应等相关信息,检测相关基因多态性,并分析其在临床治疗中的作用。结果该患者二氢嘧啶脱氢酶(DPD)基因检测位点均为野生型;亚甲基四氢叶酸还原酶(MTHFR)基因检测位点则均为突变杂合型,MTHFR活性降低,叶酸代谢异常,5-氟尿嘧啶敏感性增加;ABCB1 3435位点基因型为TT突变纯合型,易引起严重腹泻,且具有较高淋巴转移风险。结论基因多态性检测有助于制订和调整给药方案,实现个体化治疗。更多还原

【Abstract】 Objective To explore the importance of gene polymorphism detection of 5- fluorouracil( 5- FU) in clinical therapy. Methods The basic information and clinical data of a gastric cancer patient after administration of 5- FU was collected,and the related gene polymorphism was detected. Results The gene type of dihydropyrimidine dehydrogenase( DPD) was wild. The gene type of methylenetetrahydrofolate reductase( MTHFR) was mutation heterozygous type and its activity decreased,the metabolism of folic acid was disorder and the 5- FU sensitivity of patient increased. The gene type of ABCB1 3435 was mutation homozygotic type,the incidence of serious diarrhea and lymphatic metastasis risk increased. Conclusion The gene polymorphism determination of 5- FU was helpful to formulate and regulate the dosage regimen and realize the individualized treatment.更多还原