Nomenclature for human DPYD alleles

被引:69
作者
McLeod, HL [1 ]
Collie-Duguid, ESR
Vreken, P
Johnson, MR
Wei, X
Sapone, A
Diasio, RB
Fernandez-Salguero, P
van Kuilenberg, ABP
van Gennip, AH
Gonzalez, FJ
机构
[1] Univ Aberdeen, Inst Med Sci, Dept Med & Therapeut, Aberdeen AB25 2ZD, Scotland
[2] Emma Childrens Hosp, Amsterdam Med Ctr, Dept Clin Chem, Amsterdam, Netherlands
[3] Univ Alabama, Dept Pharmacol & Toxicol, Birmingham, AL USA
[4] US FDA, Off Clin Pharmacol & Biopharmaceut, Rockville, MD 20857 USA
[5] NCI, Lab Metab, NIH, Bethesda, MD USA
[6] Univ Extremadura, Fac Ciencias, Lab Bioquim & Biol Mol, E-06071 Badajoz, Spain
来源
PHARMACOGENETICS | 1998年 / 8卷 / 06期
关键词
allele nomenclature; DPYD; dihydropyrimidine dehydrogenase; pyrimidine metabolism;
D O I
10.1097/00008571-199812000-00001
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
To standardize DPYD allele nomenclature and to conform with international human gene nomenclature guidelines, an alternative to the current arbitrary system is described. Based on recommendations for human genome nomenclature, we propose that each distinct allele be designed by DPYD followed by an asterisk and an Arabic numeral. The number specifies the key mutation and, where appropriate, a letter following the number indicates an additional mutation on the mutant allele, Criteria for classification as a distinct allele are also presented. Pharmacogenetics 8:455-459. (C) 1998 Lippincott Williams & Wilkins.
引用
收藏
页码:455 / 459
页数:5
相关论文
共 35 条
[1]   Nomenclature for human CYP2D6 alleles [J].
Daly, AK ;
Brockmoller, J ;
Broly, F ;
Eichelbaum, M ;
Evans, WE ;
Gonzalez, FJ ;
Huang, JD ;
Idle, JR ;
IngelmanSundberg, M ;
Ishizaki, T ;
JacqzAigrain, E ;
Meyer, UA ;
Nebert, DW ;
Steen, VM ;
Wolf, CR ;
Zanger, UM .
PHARMACOGENETICS, 1996, 6 (03) :193-201
[2]   DIHYDROPYRIMIDINE DEHYDROGENASE-ACTIVITY AND FLUOROURACIL CHEMOTHERAPY [J].
DIASIO, RB ;
LU, ZH .
JOURNAL OF CLINICAL ONCOLOGY, 1994, 12 (11) :2239-2242
[3]   POPULATION STUDY OF DIHYDROPYRIMIDINE DEHYDROGENASE IN CANCER-PATIENTS [J].
ETIENNE, MC ;
LAGRANGE, JL ;
DASSONVILLE, O ;
FLEMING, R ;
THYSS, A ;
RENEE, N ;
SCHNEIDER, M ;
DEMARD, F ;
MILANO, G .
JOURNAL OF CLINICAL ONCOLOGY, 1994, 12 (11) :2248-2253
[4]  
FERNANDEZSALGUERO P, 1995, AM J HUM GENET, V57, P651
[5]   Lack of correlation between phenotype and genotype for the polymorphically expressed dihydropyrimidine dehydrogenase in a family of Pakistani origin [J].
FernandezSalguero, PM ;
Sapone, A ;
Wei, XX ;
Holt, JR ;
Jones, S ;
Idle, JR ;
Gonzalez, FJ .
PHARMACOGENETICS, 1997, 7 (02) :161-163
[6]  
FLEMING RA, 1992, CANCER RES, V52, P2899
[7]   DIAGNOSTIC-ANALYSIS, CLINICAL IMPORTANCE AND MOLECULAR-BASIS OF DIHYDROPYRIMIDINE DEHYDROGENASE-DEFICIENCY [J].
GONZALEZ, FJ ;
FERNANDEZSALGUERO, P .
TRENDS IN PHARMACOLOGICAL SCIENCES, 1995, 16 (10) :325-327
[8]  
HARRIS BE, 1991, CANCER, V68, P499, DOI 10.1002/1097-0142(19910801)68:3<499::AID-CNCR2820680309>3.0.CO
[9]  
2-F
[10]  
HEGGIE GD, 1987, CANCER RES, V47, P2203