Integrated CYP2D6 interrogation for multiethnic copy number and tandem allele detection
| Autor: | Raymon Vijzelaar, Lisong Shi, Ruth Kornreich, Mariana R. Botton, Suparna Martis, Stuart A. Scott, Lisa Edelmann, Geetu Mendiratta, Yao Yang, Wanqiong Qiao, Andrea Gaedigk, Robert J. Desnick |
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| Rok vydání: | 2019 |
| Předmět: |
Adult
Male DNA Copy Number Variations Genotype Copy number analysis Biology digestive system 030226 pharmacology & pharmacy White People 03 medical and health sciences 0302 clinical medicine Asian People Gene Frequency Gene duplication Ethnicity Genetics Humans Multiplex Copy-number variation Multiplex ligation-dependent probe amplification Allele skin and connective tissue diseases Genotyping Alleles Pharmacology Genotype frequency Black or African American Cytochrome P-450 CYP2D6 030220 oncology & carcinogenesis Molecular Medicine Female Research Article |
| Zdroj: | Pharmacogenomics. 20:9-20 |
| ISSN: | 1744-8042 1462-2416 |
| DOI: | 10.2217/pgs-2018-0135 |
| Popis: | Aim: To comprehensively interrogate CYP2D6 by integrating genotyping, copy number analysis and novel strategies to identify CYP2D6*36 and characterize CYP2D6 duplications. Methods: Genotyping of 16 CYP2D6 alleles, multiplex ligation-dependent probe amplification (MLPA) and CYP2D6*36 and duplication allele-specific genotyping were performed on 427 African–American, Asian, Caucasian, Hispanic, and Ashkenazi Jewish individuals. Results: A novel PCR strategy determined that almost half of all CYP2D6*10 (100C>T) alleles are actually *36 (isolated or in tandem with *10) and all identified duplication alleles were characterized. Integrated results from all testing platforms enabled the refinement of genotype frequencies across all studied populations. Conclusion: The polymorphic CYP2D6 gene requires comprehensive interrogation to characterize allelic variation across ethnicities, which was enabled in this study by integrating multiplexed genotyping, MLPA copy number analysis, novel PCR strategies and duplication allele-specific genotyping. |
| Databáze: | OpenAIRE |
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