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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Alleles
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Amino Acid Sequence
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Arginine
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Base Sequence
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Cytochrome P-450 CYP2D6
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Cytochrome P-450 Enzyme System / genetics*
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Cytochrome P-450 Enzyme System / metabolism*
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DNA Primers
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Genetic Variation*
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Glycine
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Humans
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Mixed Function Oxygenases / genetics*
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Mixed Function Oxygenases / metabolism*
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Molecular Sequence Data
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Point Mutation
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Polymerase Chain Reaction
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Polymorphism, Single-Stranded Conformational*
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Sparteine / metabolism*
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TATA Box*
Substances
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DNA Primers
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Sparteine
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Cytochrome P-450 Enzyme System
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Arginine
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Mixed Function Oxygenases
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Cytochrome P-450 CYP2D6
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Glycine