title: An additional allelic variant of the CYP2D6 gene causing impaired metabolism of sparteine.
abstract: The identification of a novel CYP2D6 allele from a healthy Caucasian poor metabolizer was achieved by using a previously described polymerase chain reaction/single-strand conformation polymorphism strategy. Among the four point mutations that this allele carries, a missense mutation in exon 1 (212 G-->A or D6-H) seems to be responsible for the loss of CYP2D6 function. Although the mutation D6-H has a low prevalence in a randomly selected population of healthy Caucasians, its identification should further increase the phenotype prediction rate by genotyping.
authors.affiliation: Laboratoire de Biochimie et Biologie Moléculaire, Hôpital Calmette, Centre Hospitalier Régional et Universitaire de Lille, France.
authors.forename: D
authors.initials: D
authors.lastname: Marez
authors.forename: M
authors.initials: M
authors.lastname: Legrand
authors.forename: N
authors.initials: N
authors.lastname: Sabbagh
authors.forename: J M
authors.initials: JM
authors.lastname: Lo-Guidice
authors.forename: P
authors.initials: P
authors.lastname: Boone
authors.forename: F
authors.initials: F
authors.lastname: Broly
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D001120:Arginine; D001483:Base Sequence; D019389:Cytochrome P-450 CYP2D6; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics* / Q000378:metabolism*; D017931:DNA Primers; D014644:Genetic Variation; D005998:Glycine; D006801:Humans; D006899:Mixed Function Oxygenases / Q000235:genetics* / Q000378:metabolism*; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D013034:Sparteine / Q000378:metabolism*; D016385:TATA Box
chemical_list: D017931:DNA Primers; D013034:Sparteine; D003577:Cytochrome P-450 Enzyme System; D001120:Arginine; D006899:Mixed Function Oxygenases; D019389:Cytochrome P-450 CYP2D6; D005998:Glycine