Cleveland Institute for Computational Biology, Case Western Reserve University, Cleveland, OH 44106, USA.
Population & Quantitative Health Sciences, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA.
Pharmacogenomics. 2022 Apr;23(5):315-325. doi: 10.2217/pgs-2021-0146. Epub 2022 Mar 1.
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. variation was characterized by locus-specific gene sequencing and was compared with TaqMan™ genotype data. Long-range PCR amplicons were generated from 96 Malagasy samples and subjected to next-generation sequencing. The authors observed high concordance between TaqMan™-based genotype calls and the base calls from sequencing. In addition, there are new variants and haplotypes present in the Malagasy. Sequencing unique admixed populations provides more detailed and accurate insights regarding variability, which may help optimize primaquine treatment across human genetic diversity.
疟疾在马达加斯加流行,那里的人群遗传自东南亚和东非。作为治疗间日疟的首选药物,伯氨喹主要通过 CYP2D6 代谢。通过基因测序和 TaqMan 基因型数据比较,对变异进行了特征描述。对 96 份马达加斯加样本进行长距离 PCR 扩增,并进行下一代测序。作者观察到基于 TaqMan 的基因型与测序碱基的高度一致性。此外,在马达加斯加还存在新的变体和单倍型。对混合人群进行测序可以提供更详细和准确的变异信息,这可能有助于优化在人类遗传多样性背景下的伯氨喹治疗。