CYP2D6 gene resequencing in the Malagasy, a population at the crossroads between Asia and Africa: a pilot study
| Autor: | E Ricky Chan, Rajeev K Mehlotra, Karim A Pirani, Arsene C Ratsimbasoa, Scott M Williams, Andrea Gaedigk, Peter A Zimmerman |
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| Rok vydání: | 2022 |
| Předmět: | |
| Zdroj: | Pharmacogenomics. 23:315-325 |
| ISSN: | 1744-8042 1462-2416 |
| DOI: | 10.2217/pgs-2021-0146 |
| Popis: | Background: Plasmodium vivax malaria is endemic in Madagascar, where populations have genetic inheritance from Southeast Asia and East Africa. Primaquine, a drug of choice for vivax malaria, is metabolized principally via CYP2D6. CYP2D6 variation was characterized by locus-specific gene sequencing and was compared with TaqMan™ genotype data. Materials & methods: Long-range PCR amplicons were generated from 96 Malagasy samples and subjected to next-generation sequencing. Results: The authors observed high concordance between TaqMan™-based CYP2D6 genotype calls and the base calls from sequencing. In addition, there are new variants and haplotypes present in the Malagasy. Conclusion: Sequencing unique admixed populations provides more detailed and accurate insights regarding CYP2D6 variability, which may help optimize primaquine treatment across human genetic diversity. |
| Databáze: | OpenAIRE |
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