Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
A NOVEL CYP2D6 ALLELE WITH AN ABOLISHED SPLICE RECOGNITION SITE ASSOCIATED WITH THE POOR METABOLIZER PHENOTYPE
Autore:
MAREZ D; SABBAGH N; LEGRAND M; LOGUIDICE JM; BOONE P; BROLY F;
Indirizzi:
CTR HOSP REG & UNIV LILLE,HOP CALMETTE,BIOCHIM & BIOL MOLEC LAB,BD J LECLERQ F-59037 LILLE FRANCE
Titolo Testata:
Pharmacogenetics
fascicolo: 5, volume: 5, anno: 1995,
pagine: 305 - 311
SICI:
0960-314X(1995)5:5<305:ANCAWA>2.0.ZU;2-J
Fonte:
ISI
Lingua:
ENG
Soggetto:
DRUG-METABOLISM; PARKINSONS-DISEASE; DEBRISOQUINE; GENE; LOCUS; POLYMORPHISM; HYDROXYLASE; IDENTIFICATION; SUSCEPTIBILITY; AMPLIFICATION;
Keywords:
CYP2D6; PCR-SSCP; PHARMACOGENETIC; DEBRISOQUINE; GENOTYPING;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
32
Recensione:
Indirizzi per estratti:
Citazione:
D. Marez et al., "A NOVEL CYP2D6 ALLELE WITH AN ABOLISHED SPLICE RECOGNITION SITE ASSOCIATED WITH THE POOR METABOLIZER PHENOTYPE", Pharmacogenetics, 5(5), 1995, pp. 305-311

Abstract

A novel loss-of function allele of the CYP2D6 gene was characterized in a PM individual using exon-by-exon PCR-SSCP analysis. This allele, we termed CYP2D6(F), harbours four mutations including a new mutation (D6-F) which abolishes the splice acceptor site of the Ist intron and results in a premature stop codon, DNA samples from a large populationof healthy unrelated volunteers were tested for D6-F using a PCR-assay we developed for the specific identification of the mutation in genomic DNA. The prevalence of D6-F was very low. However, its identification combined with that of the previously reported gene inactivating mutations would further increase the phenotype prediction rate by genotyping.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 07/04/20 alle ore 04:18:45