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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
1995-3-24
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pubmed:abstractText |
The cytochrome P450 CYP2D6 is a polymorphic enzyme, for which 5%-10% of Caucasians (poor metabolizers) lack activity. The majority of mutations giving rise to the deficiency have now been identified but some individuals show anomalous phenotype-genotype relationships when screened for the common mutant alleles. We have sequenced all nine exons and intron-exon boundaries in a subject who was phenotypically a poor metabolizer but genotypically heterozygous when screened for the common alleles. A single base-pair deletion (T1795) was detected in exon 3 and a base substitution (G2064A) resulting in an amino acid substitution (G212E) in exon 4. The deletion results in premature termination of translation and a truncated protein. In a group of 50 white Americans, the allele frequency for the new mutant allele was 0.01. The new allele explains some cases of anomalous genotype/phenotype relationships for CYP2D6.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
0340-6717
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
95
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pubmed:geneSymbol |
CYP2D,
CYP2D6
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
337-41
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:7868129-Adult,
pubmed-meshheading:7868129-Base Sequence,
pubmed-meshheading:7868129-Case-Control Studies,
pubmed-meshheading:7868129-Cytochrome P-450 CYP2D6,
pubmed-meshheading:7868129-Cytochrome P-450 Enzyme System,
pubmed-meshheading:7868129-DNA Mutational Analysis,
pubmed-meshheading:7868129-DNA Primers,
pubmed-meshheading:7868129-Debrisoquin,
pubmed-meshheading:7868129-Genes,
pubmed-meshheading:7868129-Genotype,
pubmed-meshheading:7868129-Heterozygote,
pubmed-meshheading:7868129-Humans,
pubmed-meshheading:7868129-Male,
pubmed-meshheading:7868129-Mixed Function Oxygenases,
pubmed-meshheading:7868129-Molecular Sequence Data,
pubmed-meshheading:7868129-Phenotype,
pubmed-meshheading:7868129-Point Mutation,
pubmed-meshheading:7868129-Sequence Deletion
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pubmed:year |
1995
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pubmed:articleTitle |
An inactive cytochrome P450 CYP2D6 allele containing a deletion and a base substitution.
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pubmed:affiliation |
Department of Pharmacological Sciences, University of Newcastle upon Tyne, Medical School, UK.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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