ArticleThe Journal of molecular diagnostics : JMD2015
CYP2D6 Haplotype Determination Using Long Range Allele-Specific Amplification: Resolution of a Complex Genotype and a Discordant Genotype Involving the CYP2D6*59 Allele.
Article in The Journal of molecular diagnostics : JMD, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 40 citations in OpenAlex.
- Trial
- Exploring the Pharmacogenetic Landscape: Identification of Clinically Relevant Genotypes by a Nation-Wide Medical Testing Laboratory in Romania.Pharmaceuticals (Basel, Switzerland) · 2025Article
- Determination of the DuplicatedJournal of personalized medicine · 2023Article
- Characterization of NovelJournal of personalized medicine · 2022Article
- Genetic Variation among Pharmacogenes in the Sardinian Population.International journal of molecular sciences · 2022Article
- Cas9 targeted nanopore sequencing with enhanced variant calling improves CYP2D6-CYP2D7 hybrid allele genotyping.PLoS genetics · 2022Article
- Article
- The Impact of the CYP2D6 "Enhancer" Single Nucleotide Polymorphism on CYP2D6 Activity.Clinical pharmacology and therapeutics · 2022Article
- Rare Variants in RPPH1 Real-Time Quantitative PCR Control Assay Binding Sites Result in Incorrect Copy Number Calls.The Journal of molecular diagnostics : JMD · 2022Article
- The Identification of NovelFrontiers in pharmacology · 2022Article
- Methodology for clinical genotyping of CYP2D6 and CYP2C19.Translational psychiatry · 2021Article
- Recommendations for Clinical CYP2D6 Genotyping Allele Selection: A Joint Consensus Recommendation of the Association for Molecular Pathology, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, and the European Society for Pharmacogenomics and Personalized Therapy.The Journal of molecular diagnostics : JMD · 2021Review
- Resolving discordantPharmacogenomics · 2021Article
- Identification of CYP2D6 Haplotypes that Interfere with Commonly Used Assays for Copy Number Variation Characterization.The Journal of molecular diagnostics : JMD · 2021Article
- Determination of novel CYP2D6 haplotype using the targeted sequencing followed by the long-read sequencing and the functional characterization in the Japanese population.Journal of human genetics · 2021Article
- Interrogation of CYP2D6 Structural Variant Alleles Improves the Correlation Between CYP2D6 Genotype and CYP2D6-Mediated Metabolic Activity.Clinical and translational science · 2020Article
- PharmVar GeneFocus: CYP2D6.Clinical pharmacology and therapeutics · 2020Review
- Long-Distance Phasing of a Tentative "Enhancer" Single-Nucleotide Polymorphism WithFrontiers in pharmacology · 2020Article
- Characterization of Reference Materials for Genetic Testing of CYP2D6 Alleles: A GeT-RM Collaborative Project.The Journal of molecular diagnostics : JMD · 2019Article
- CYP2D6 haplotypes with enhancer single-nucleotide polymorphism rs5758550 and rs16947 (*2 allele): implications for CYP2D6 genotyping panels.Pharmacogenetics and genomics · 2019Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Cytochrome P450 (CYP) 2D6, a major contributor to the metabolism and bioactivation of many clinically used drugs, is encoded by a complex, highly polymorphic gene locus. To aid in the characterization of CYP2D6 allelic variation, we developed allele-specific long-range PCR (ASXL-PCR) to amplify only the allele of interest for further characterization by PCR. This development was achieved utilizing single-nucleotide polymorphisms in the upstream region of CYP2D6 and a universal CYP2D6-specific reverse primer. This approach was assessed and optimized on samples with known genotypes. The application of ASXL-PCR clarified a case with a complex genotype (CYP2D6*2x2/*4N+*4) by amplifying the duplicated gene units separately for subsequent analysis. Furthermore, ASXL-PCR and subsequent sequence analysis also resolved genotype discord in a mother/daughter relationship by revealing the presence of the CYP2D6*59 allelic variant in both individuals. Finally, we demonstrated that the 2939G>A single-nucleotide polymorphism present on CYP2D6*59 interfered with the TaqMan genotype assay that detected 2850C>T, causing false genotype assignments. Assay interference was resolved using an alternative TaqMan genotype assay currently available as a custom-made assay. These examples demonstrate the utility of ASXL-PCR for improved CYP2D6 allele/haplotype characterization. This fast, easy-to-perform method is not limited to CYP2D6 but can be adapted to any gene locus for which polymorphic sites are known.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.