该基因编码的蛋白是嘧啶分解代谢酶,是尿嘧啶和胸腺嘧啶分解代谢途径的起始和限速因子。该基因突变导致二氢嘧啶脱氢酶缺乏,嘧啶代谢错误与胸腺嘧啶尿嘧啶尿有关,癌症患者接受5-氟尿嘧啶化疗后毒性增加。两个编码不同亚型的转录变体已经被发现。 The protein encoded by this gene is a pyrimidine catabolic enzyme and ...
该基因编码的蛋白是嘧啶分解代谢酶,是尿嘧啶和胸腺嘧啶分解代谢途径的起始和限速因子。该基因突变导致二氢嘧啶脱氢酶缺乏,嘧啶代谢错误与胸腺嘧啶尿嘧啶尿有关,癌症患者接受5-氟尿嘧啶化疗后毒性增加。两个编码不同亚型的转录变体已经被发现。 The protein encoded by this gene is a pyrimidine catabolic enzyme and ...
6,Johnson M, Diasio R. Importance of dihydropyrimidine dehy- drogenase (DPD) deficiency in patients exhibiting toxicity following treatment with 5-fluorouracil. Adv Enzym Regul 2001; 41:151e7. 7,Amstutz U, Froehlich TK, Largiade`r CR. Dihydropyrimidine dehydrogenase gene as a major predictor ...
该基因突变导致二氢嘧啶脱氢酶缺乏,嘧啶代谢错误与胸腺嘧啶尿嘧啶尿有关,癌症患者接受5-氟尿嘧啶化疗后毒性增加。两个编码不同亚型的转录变体已经被发现。 The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabo...
Dpyd gene variants and use thereof
[5] LunenburgCATC, Wouden CHVD, Nijenhuis M , et al. Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene–drug interaction of DPYD and fluoropyrimidines[J]. European Journal of HumanGenetics, 2019, 28(4):1...
[6]Raida M,Schwabe W,Hausler P,et al.Prevalence of a common point mutation in the dihydropyrimidine dehydrogenase(DPD)gene within the 5’-splice donor site of intron 14 in patients with severe 5-fluorouracil(5-FU)-related toxicity compared with controls[J].Clin Cancer Res,2001,7:2832-2839...
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 lo...
Mutation 1 Gene: DPYD*4 WT AA Change: p.S534N DNA Change: NM_000110.4:c.1601G>A Chr position (GRCh38): chr1:97515865 G>A Allelic Frequency: 0% Zygosity: Wlid Type Mutation 2 Gene: DPYD*9 WT AA Change: p.C29R ...
Mutations at codon 974 of the DPYD gene are a rare event. A mutation at codon 974 of the dihydropyrimidine dehydrogenase (DPD) gene was previously described in a cancer patient with undetectable DPD enzyme activit... S Ridge,O Brown,J Mcmurrough,... - 《British Journal of Cancer》 被引...