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目的氟尿嘧啶(5-Fu)是各种肿瘤治疗中应用最为广泛的抗肿瘤药物之一。体内80%以上的5-Fu在肝脏内经由二氢嘧啶脱氢酶(DPD)分解代谢。DPYD基因是DPD酶的编码基因,本研究旨在考察DPYD基因的*5及*9A位点在中国汉族乳腺癌患者中的突变频率。方法本研究收集100例乳腺癌患者的外周静脉血,应用基因测序的方法对93例乳腺癌患者DNA标本进行了DPYD*5及*9A位点的测序。结果对于DPYD*5的1627A>G突变位点,有37例发生突变,其中7例为纯合子突变,30例为杂合子突变;对于DPYD*9A的85T>C突变位点,有19例发生突变,其中1例为纯合子突变,18例为杂合子突变。有9例患者呈现DPYD*5/*9A联合突变。结论在中国汉族乳腺癌患者中(93例),DPYD*5的突变频率为39.8%,DPYD*9A的突变频率是20.4%,DPYD*5/*9A联合突变的发生频率为9.7%。
Objective Fluorouracil (5-Fu) is one of the most widely used anti-tumor drugs in various tumor treatments. More than 80% of 5-Fu in the body is metabolized via dihydropyrimidine dehydrogenase (DPD) in the liver. The DPYD gene is the encoding gene of DPD enzyme. The purpose of this study was to investigate the frequency of mutation of DPD * 5 * and * 9A loci in Chinese Han patients with breast cancer. Methods In this study, 100 peripheral blood samples from patients with breast cancer were collected. Sequencing of DPYD * 5 and * 9A sites was performed on DNA samples from 93 patients with breast cancer using gene sequencing. RESULTS: For the 1627A> G mutation site of DPYD * 5, 37 mutations occurred, of which 7 were homozygous mutations and 30 heterozygous mutations. For 85T> C mutation sites of DPYD * 9A, 19 occurred Mutations, including 1 case of homozygous mutation, 18 cases of heterozygous mutation. Nine patients presented a combined DPYD * 5 / * 9A mutation. Conclusions In Chinese Han patients with breast cancer (93 cases), the mutation frequency of DPYD * 5 is 39.8%, the mutation frequency of DPYD * 9A is 20.4%, and the frequency of DPYD * 5 / * 9A combination mutation is 9.7%.