Ridge S A, Brown O, McMurrough J, Fernandez-Salguero P, Evans W E, Gonzalez F J, McLeod H L
Department of Medicine and Therapeutics, University of Aberdeen, Foresterhill, UK.
Br J Cancer. 1997;75(2):178-9. doi: 10.1038/bjc.1997.29.
A mutation at codon 974 of the dihydropyrimidine dehydrogenase (DPD) gene was previously described in a cancer patient with undetectable DPD enzyme activity who experienced severe toxicity when treated with 5-fluorouracil. We have studied the frequency of this mutation in 29 Scottish subjects with low DPD enzyme activity and in 274 American subjects. We detected no mutations in the 606 alleles studied and conclude that mutations at codon 974 are a rare event.
先前在一名二氢嘧啶脱氢酶（DPD）基因第974密码子处发生突变的癌症患者中有所描述，该患者DPD酶活性检测不到，在接受5-氟尿嘧啶治疗时出现了严重毒性。我们研究了29名DPD酶活性较低的苏格兰受试者以及274名美国受试者中该突变的发生频率。在所研究的606个等位基因中未检测到突变，我们得出结论，第974密码子处的突变是罕见事件。
