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马达加斯加的基因重测序：一个连接亚非大陆的人群的初步研究。

gene resequencing in the Malagasy, a population at the crossroads between Asia and Africa: a pilot study.

机构信息

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.

出版信息

Pharmacogenomics. 2022 Apr;23(5):315-325. doi: 10.2217/pgs-2021-0146. Epub 2022 Mar 1.

DOI:10.2217/pgs-2021-0146
PMID:35230160
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8965795/
Abstract

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.

摘要

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f5d0/8965795/c14c3722e13f/pgs-23-315-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f5d0/8965795/c14c3722e13f/pgs-23-315-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f5d0/8965795/c14c3722e13f/pgs-23-315-g1.jpg

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Global perspectives on associations with primaquine metabolism and radical cure.关于伯氨喹代谢与根治关系的全球观点。
Front Pharmacol. 2022 Nov 15;13:752314. doi: 10.3389/fphar.2022.752314. eCollection 2022.

本文引用的文献

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Pharmacogene Variation Consortium: A Global Resource and Repository for Pharmacogene Variation.药物基因变异联盟：一个全球药物基因变异资源库。
Clin Pharmacol Ther. 2021 Sep;110(3):542-545. doi: 10.1002/cpt.2321. Epub 2021 Jun 29.
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Resolving discordant genotyping results in Thai subjects: platform limitations and novel haplotypes.解决泰国人群中基因分型结果不一致的问题：平台限制和新的单倍型。
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Genetic Variation and Its Implication for Vivax Malaria Treatment in Madagascar.
马达加斯加间日疟原虫疟疾治疗中的基因变异及其意义
Front Pharmacol. 2021 Apr 20;12:654054. doi: 10.3389/fphar.2021.654054. eCollection 2021.
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Genetic evidence and historical theories of the Asian and African origins of the present Malagasy population.关于现今马达加斯加人口亚洲和非洲起源的遗传证据及历史理论。
Hum Mol Genet. 2021 Apr 26;30(R1):R72-R78. doi: 10.1093/hmg/ddab018.
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Hypnozoites in Plasmodium: Do Parasites Parallel Plants?疟原虫休眠子：寄生虫是否与植物类似？
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Standardizing CYP2D6 Genotype to Phenotype Translation: Consensus Recommendations from the Clinical Pharmacogenetics Implementation Consortium and Dutch Pharmacogenetics Working Group.标准化 CYP2D6 基因型到表型的转化：临床药物基因组学实施联盟和荷兰药物基因组学工作组的共识建议。
Clin Transl Sci. 2020 Jan;13(1):116-124. doi: 10.1111/cts.12692. Epub 2019 Oct 24.
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