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Titolo:
POLYMORPHISM OF THE CYTOCHROME-P450 CYP2D6 GENE IN A EUROPEAN POPULATION - CHARACTERIZATION OF 48 MUTATIONS AND 53 ALLELES, THEIR FREQUENCIES AND EVOLUTION
Autore:
MAREZ D; LEGRAND M; SABBAGH N; LOGUIDICE JM; SPIRE C; LAFITTE JJ; MEYER UA; BROLY F;
Indirizzi:
CHRU,HOP CALMETTE,LAB BIOCHIM & BIOL MOL,BD J LECLERQ F-59037 LILLE FRANCE CHRU,HOP CALMETTE,CLIN PNEUMOPHTISIOL F-59037 LILLE FRANCE UNIV BASEL,BIOZENTRUM,DEPT PHARMACOL CH-4056 BASEL SWITZERLAND
Titolo Testata:
Pharmacogenetics
fascicolo: 3, volume: 7, anno: 1997,
pagine: 193 - 202
SICI:
0960-314X(1997)7:3<193:POTCCG>2.0.ZU;2-T
Fonte:
ISI
Lingua:
ENG
Soggetto:
POOR METABOLIZER PHENOTYPE; DEBRISOQUINE HYDROXYLATION CAPACITY; DRUG-METABOLISM; SWEDISH POPULATION; CHINESE SUBJECTS; MOLECULAR-BASIS; AMINO-ACID; DELETION; IDENTIFICATION; SPARTEINE;
Keywords:
CYP2D6 POLYMORPHISM; PHARMACOGENETICS; POPULATION; SSCP;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
52
Recensione:
Indirizzi per estratti:
Citazione:
D. Marez et al., "POLYMORPHISM OF THE CYTOCHROME-P450 CYP2D6 GENE IN A EUROPEAN POPULATION - CHARACTERIZATION OF 48 MUTATIONS AND 53 ALLELES, THEIR FREQUENCIES AND EVOLUTION", Pharmacogenetics, 7(3), 1997, pp. 193-202

Abstract

The polymorphic cytochrome P450 CYP2D6 is involved in the metabolism of various drugs of wide therapeutic use and is a presumed susceptibility factor for certain environmentally-induced diseases, Our aim was to define the mutations and alleles of the CYP2D6 gene and to evaluate their frequencies in the European population, Using polymerase chain reaction-single strand conformation polymorphism analysis, 672 unrelated subjects were screened for mutations in the 9 exons of the gene and their exon-intron boundaries, A total of 48 point mutations were identified, of which 29 were novel, Mutations 1749 G --> C, 2938 C --> T and 4268 G --> C represented 52.6% 34.3% and 52.9%, of the mutations in the total population, respectively, Of the eight detrimental mutationsdetected, the 1934 G --> A, the 1795 Tdel and the 2637 Adel accountedfor 65.8% 6.2%, and 4.8% respectively, within the poor metabolizer subgroup, Fifty-three different alleles were characterized from the mutation pattern and by allele-specific sequencing, They are derived from three major alleles, namely the wild-type CYP2D61A, the functional CYP2D62 and the null CYP2D6*4A. Five allelic variants (CYP2D6*1A, *2, *2B, 4A and *5) account for about 87%, of all alleles, while the remaining alleles occur with a frequency of 0.1% - 2.7%. These data providea solid basis for future epidemiological, clinical as well as interethnic studies of the CYP2D6 polymorphism and highlight that the described single strand conformation polymorphism method call be successfullyused in designing such studies.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/03/20 alle ore 15:05:16