Uzunkoy Ali, Dilmec Fuat, Ozgonul Abdullah, van Kuilenburg Andre B P, Akkafa Feridun
Department of General Surgery, Medicine Faculty, Harran University, Sanliurfa, Turkey.
Anticancer Res. 2007 Nov-Dec;27(6B):3899-902.
Dihydropyrimidine dehydrogenase (DPD) is a critical enzyme in the catabolism of 5-fluorouracil (5-FU), a drug frequently used in cancer therapy. One of the possible causes of severe 5-FU toxicity is genetic polymorphisms in the DPYD gene, such as IVS14+1G > A. In this study we aimed to investigate the frequency of the IVS14+1G > A mutation in the DPYD gene in Turkish patients with colorectal cancer (CRC) and healthy controls.
Blood samples were collected from 218 individuals (56 patients with CRC and 162 healthy individuals), and the DNA was isolated. A polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to detect the frequency of the IVS14+1G > A mutation in our population.
The IVS14+1G > A mutation (heterozygous) in the DPYD gene was identified in two healthy subjects in this Turkish population.
The apparently high prevalence (allele frequency of 0.6%) of the IVS14+1G > A mutation warrants genetic screening for this mutation in cancer patients before the administration of 5-FU.
二氢嘧啶脱氢酶（DPD）是5-氟尿嘧啶（5-FU，一种癌症治疗中常用药物）分解代谢中的关键酶。5-FU严重毒性的可能原因之一是DPYD基因的遗传多态性，如IVS14 +1G>A。在本研究中，我们旨在调查土耳其结直肠癌（CRC）患者和健康对照中DPYD基因IVS14 +1G>A突变的频率。
从218名个体（56例CRC患者和162名健康个体）采集血样并分离DNA。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法检测我们研究人群中IVS14 +1G>A突变的频率。
在该土耳其人群的两名健康受试者中鉴定出DPYD基因的IVS14 +1G>A突变（杂合子）。
IVS14 +1G>A突变明显较高的患病率（等位基因频率为0.6%）表明，在给予5-FU之前，应对癌症患者进行该突变的基因筛查。
