A silent mutation (2939G> A, exon 6; CYP2D6* 59) leading to impaired expression and function of CYP2D6

C Toscano, S Raimundo, K Klein… - Pharmacogenetics …, 2006 - journals.lww.com
We analyzed CYP2D6 in two individuals characterized by impaired sparteine oxidation
(intermediate metabolizer phenotype) and genotype 2D6* 2/* 4 (1661G> C; 2850C> T; …

A new simple diagnostic assay for the identification of the major CYP2D6 genotypes by DNA sequencing analysis.

HM James, JK Coller, D Gillis, J Bahnisch… - … journal of clinical …, 2004 - europepmc.org
Methods Initial PCR reactions were performed to specifically amplify exons 3, 4, 5 and 6 of
the CYP2D6 gene using primers previously published. New primers were used to identify …

Identification of a novel non-functional CYP2D6 allele, CYP2D6*69, in a Caucasian poor metabolizer individual

A Gaedigk, D Frank, U Fuhr - European journal of clinical pharmacology, 2009 - Springer
Identification of a novel non-functional CYP2D6 allele, CYP2D6*69, in a Caucasian poor
metabolizer individual | SpringerLink Skip to main content Advertisement SpringerLink Log in …

Pharmacogenomics of CYP2D6: molecular genetics, interethnic differences and clinical importance

LK Teh, L Bertilsson - Drug metabolism and pharmacokinetics, 2012 - jstage.jst.go.jp
CYP2D6 has received intense attention since the beginning of the pharmacogenetic era in
the 1970s. This is because of its involvement in the metabolism of more than 25% of the …

CYP2D6 poor metabolizer status can be ruled out by a single genotyping assay for the− 1584G promoter polymorphism

A Gaedigk, DL Ryder, LDA Bradford… - Clinical …, 2003 - academic.oup.com
Genotyping strategies targeting allelic variants with diminished or no activity to identify poor
metabolizers generally works well in Caucasian (1–3) and Asian (4, 5) populations, but we …

Novel single nucleotide polymorphisms in the CYP2D6 gene associated with CYP2D6* 2 and/or CYP2D6* 10 alleles

A Soyama, Y Saito, K Komamura, K Ueno… - Drug metabolism and …, 2002 - Elsevier
Novel single nucleotide polymorphisms (SNPs) were found in introns 1, 3, 4, 5, and 7 of the
gene encoding cytochrome (CYP) 2D6 in 90 Japanese subjects. Some of these SNPs were …

A novel CYP2D6 allele with an abolished splice recognition site associated with the poor metabolizer phenotype

D Marez, N Sabbagh, M Legrand… - Pharmacogenetics …, 1995 - journals.lww.com
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 …

Elucidation of the genetic basis of the common 'intermediate metabolizer'phenotype for drug oxidation by CYP2D6

S Raimundo, J Fischer, M Eichelbaum… - Pharmacogenetics …, 2000 - journals.lww.com
Abstract A subgroup of 10–15% of Caucasians are termed phenotypical 'intermediate
metabolizers' of drug substrates of CYP2D6 because they have severely impaired yet …

Two novel haplotypes of CYP2D6 gene in a Japanese population

H Yamazaki, K Kiyotani, S Tsubuko… - Drug metabolism and …, 2003 - Elsevier
Two novel haplotypes of CYP2D6 were found in Japanese subjects. One haplotype of the
human CYP2D6 gene, newly designated as CYP2D6* 44 allele, had both a novel single …

Pharmacogenetic screening of the gene deletion and duplications of CYP2D6

I Meijerman, LM Sanderson, PHM Smits… - Drug metabolism …, 2007 - Taylor & Francis
Cytochrome P450 (CYP) 2D6 is one of the most important enzymes involved in the
metabolism of drugs. Multiple, clinically relevant, genetic variants of this gene have been …