Al-Khateeb Mohammad, Awidi Abdalla, Al-Hadidi Kamal, Battah Abdelkader
Thrombosis Haemostasis Laboratory, University of Jordan, Amman, Jordan.
Department of Pathology and Microbiology, Forensic Medicine, University of Jordan, Amman, Jordan. Email:
Asian Pac J Cancer Prev. 2017 Jun 25;18(6):1651-1654. doi: 10.22034/APJCP.2017.18.6.1651.
Background: Dihydropyrimidine dehydrogenase (DPD) is a crucial enzyme in the catabolism of 5-fluorouracil (5-FU), a drug that is frequently used in cancer therapy. Patients with deficient DPD activity are at risk of developing severe 5-FU–associated toxicity. One possible cause of deficiency is genetic polymorphisms in the DPD gene, such as IVS14+1G>A. Aim: The present study was conducted to screen for the IVS14+1G>A polymorphism in cancer patients receiving 5-FU and a control group. Methods: A total of 40 cancer patients (30 colorectal cancer (CRC) and 10 breast cancer patients) were enrolled in this study. One hundred healthy controls were also tested using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). DNA sequence analysis was carried out to confirm the presence of the IVSI14+1G>A polymorphism. Results: Only one CRC patient showed heterozygous IVS14+1G>A polymorphism in the DPD gene. Conclusion: The results of this study demonstrated a very low frequency of the IVS14+1G>A polymorphism among Jordanian patients with colorectal and breast cancer.
二氢嘧啶脱氢酶（DPD）是5-氟尿嘧啶（5-FU）分解代谢中的一种关键酶，5-氟尿嘧啶是一种常用于癌症治疗的药物。DPD活性缺乏的患者有发生严重的5-FU相关毒性的风险。缺乏的一个可能原因是DPD基因的遗传多态性，如IVS14+1G>A。目的：本研究旨在筛查接受5-FU治疗的癌症患者和对照组中的IVS14+1G>A多态性。方法：本研究共纳入40例癌症患者（30例结直肠癌（CRC）患者和10例乳腺癌患者）。还使用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）对100名健康对照者进行了检测。进行DNA序列分析以确认IVSI14+1G>A多态性的存在。结果：仅1例CRC患者在DPD基因中表现出杂合的IVS14+1G>A多态性。结论：本研究结果表明，约旦结直肠癌和乳腺癌患者中IVS14+1G>A多态性的频率非常低。
