Amplicon-based DNA sequencing to characterize Duffy antigen polymorphisms and analysis of Duffy blood system and glucose-6-phosphate dehydrogenase deficiency in Mauritania

Sep 29, 2026

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Background: Duffy blood antigen expression and G6PD deficiency are linked to ethnic origin, making updated prevalence data on Duffy gene polymorphisms crucial for programs aiming to eliminate Plasmodium vivax malaria. Methods: Using cost-saving multiplexed barcoding and next-generation sequencing, Duffy genotypes and predicted phenotypes were assessed in 943 Mauritanian samples across ethnic groups with previously defined G6PD genotypes. Results: Duffy-negative phenotype predominated in black African ancestry; Duffy-negative and G6PD A- deficiency showed sex-biased patterns. Conclusion: Findings indicate differing susceptibilities and support routine G6PD screening before primaquine in specific cases.

LanguageEnglish

CategoryHealthcare

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Reading Time55 min

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Abstract

Background

Methods

Results

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Author summary

OPEN ACCESS Citation: Fontaine A, Djigo OKM, Gomez N, Boukhary AOMS, Basco L, Briolant S (2025) Amplicon-based DNA sequencing to characterize Duffy antigen polymorphismsand analysis of Duffy blood system and glucose-6-phosphate dehydrogenase deficiency in Mauritania. PLoS Negl Trop Dis 19(12): e0013882. [https://doi.org/10.1371/journal](https://doi.org/10.1371/journal). pntd.0013882 Editor: Sarman Singh, Advanced Centre for Chronic and Rare Diseases, INDIA Received: March 27, 2025 Accepted: December 19, 2025 Published: December 26, 2025 Copyright: © 2025 Fontaine et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Data availability statement: All data are available in the supplementary information. Raw sequencing data are accessible under the NCBI BioProject number PRJNA1241788 . RESEARCH ARTICLE Amplicon-based DNA sequencing to characterize Duffy antigen polymorphisms and analysis of Duffy blood system and glucose-6-phosphate dehydrogenase deficiency in Mauritania Albin Fontaine1,2,3☯, Oum Kelthoum Mamadou Djigo4☯, Nicolas Gomez1,2,3, Ali Ould Mohamed Salem Boukhary4, Leonardo Basco3,5☯, Sébastien Briolant1,2,3☯* 1 Unité Parasitologie et Entomologie, Département des risques vectoriels, Institut de Recherche Biomédicale des Armées (IRBA), Marseille, France, 2 Aix Marseille Université, Service de Santé des Armées (SSA), Assistance Publique – Hôpitaux de Marseille (AP-HM), Unité Mixte de Recherche (UMR) D 257 Risques Infectieux, Microorganismes Emergents (RITMES), Marseille, France, 3 Institut HospitaloUniversitaire (IHU)– Méditerranée Infection, Marseille, France, 4 Unité de Recherche Génomes et Milieux, Faculté des Sciences et Techniques, Université de Nouakchott, Nouakchott, Mauritania, 5 Institut de Recherche pour le Développement (IRD), Marseille, France ☯ These authors contributed equally to this work. * [sebastien.briolant@univ-amu.fr](sebastien.briolant@univ-amu.fr), [sbriolant@wanadoo.fr](sbriolant@wanadoo.fr) Abstract Background Both Duffy blood antigen expression and G6PD deficiency are known to be associated with ethnic origin. Updates in epidemiological data on the prevalence of polymorphisms in these two human genes are key information for guiding national programs to eliminate Plasmodium vivax malaria. Methods Duffy genotypes and their predicted phenotypes were determined in 943 blood samples from Mauritanian patients belonging to different ethnic groups (n = 432 White Moors and n = 511 individuals of black African ancestry) with a known G6PD genotype determined by PCR-restriction fragment length polymorphism in our previous study, using a cost-saving multiplexed barcoding technique that allows simultaneous analysis of a large number of samples and next-generation DNA sequencing (NGS) . Results Duffy-negative phenotype predicted from Duffy genotype was predominant in individuals with black African ancestry (65–88%), while 16% of white Moors were Duffy-negative. Among 432 samples with interpretable Duffy sequence data from white Moors, 7/356 (2 .0%) were Duffy-positive and G6PD A– deficient; 8/76 (10 .5%) were Duffy-negative and G6PD A– deficient, mostly (n = 6) in heterozygous females. PLOS Neglected Tropical Diseases | [https://doi.org/10.1371/journal.pntd.0013882](https://doi.org/10.1371/journal.pntd.0013882) December 26, 2025 1 / 22 Funding: This study received funding from the Direction Générale de l’Armement (grant no PDH-2-NRBC-2-B-2113) and from the Institut de Recherche pour le Développement (IRD), Jeune Equipe Associée à l’IRD (RI3M) . OKMD received a scholarship from the French government. The contents of this publication are the sole responsibility of the authors. The fundershad no role in study design, data collection and analysis, decision to publish, or preparation

FAQs

What is the main goal of this study in Mauritania?

To characterize Duffy antigen polymorphisms and analyze the Duffy blood system alongside G6PD deficiency, providing epidemiological clues to support national P. vivax malaria elimination efforts.

How were Duffy genotypes and phenotypes determined?

Duffy genotypes and predicted phenotypes were derived from cost-saving multiplexed barcoding combined with next-generation DNA sequencing, using previously determined G6PD genotypes.

What patterns were observed in Duffy-negative status and G6PD A- deficiency?

Among black African ancestry, the Duffy-negative phenotype predominated, while both groups showed Duffy-negative and G6PD A- deficiency with cases often concentrated in heterozygous females.

Why is G6PD screening important for primaquine therapy in this population?

Because G6PD A- deficiency affects eligibility and risk from primaquine, the results support G6PD screening before primaquine in rare P. vivax infection cases.

Sep 29, 2026

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