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Performance of a Commercial Multiplex Allele-Specific Polymerase Chain Reaction Kit to Genotype African-Type Glucose-6-Phosphate Dehydrogenase Deficiency.
Djigo, Oum Kelthoum Mamadou; Gomez, Nicolas; Ould Ahmedou Salem, Mohamed Salem; Basco, Leonardo; Ould Mohamed Salem Boukhary, Ali; Briolant, Sébastien.
Afiliação
  • Djigo OKM; Unité de Recherche "Génomes et Milieux" (Jeune Equipe Associée à l'Institut de Recherche pour le Développement), Faculté des Sciences et Techniques, Université de Nouakchott, Nouakchott, Mauritania.
  • Gomez N; Aix Marseille Université, Institut de Recherche pour le Développement, Assistance Publique-Hôpitaux de Marseille, Service de Santé des Armées, Vecteurs-Infections Tropicales et Méditerranéennes, Marseille, France.
  • Ould Ahmedou Salem MS; Institut Hospitalo-Universitaire-Méditerranée Infection, Marseille, France.
  • Basco L; Unité de Parasitologie Entomologie, Département de Microbiologie et Maladies Infectieuses, Institut de Recherche Biomédicale des Armées, Marseille, France.
  • Ould Mohamed Salem Boukhary A; Unité de Recherche "Génomes et Milieux" (Jeune Equipe Associée à l'Institut de Recherche pour le Développement), Faculté des Sciences et Techniques, Université de Nouakchott, Nouakchott, Mauritania.
  • Briolant S; Aix Marseille Université, Institut de Recherche pour le Développement, Assistance Publique-Hôpitaux de Marseille, Service de Santé des Armées, Vecteurs-Infections Tropicales et Méditerranéennes, Marseille, France.
Am J Trop Med Hyg ; 108(2): 449-455, 2023 02 01.
Article em En | MEDLINE | ID: mdl-36535256
8-Aminoquinoline antimalarial drugs (primaquine, tafenoquine) are required for complete cure of Plasmodium vivax malaria, but they are contraindicated in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency. In the absence of spectrophotometry, which is a gold standard for measuring G6PD activity, G6PD genotyping is one of the alternatives to establish a database and distribution map of G6PD enzyme deficiency in Mauritania, which has become a new epicenter of P. vivax malaria in West Africa. The aim of our study was to assess the performance of multiplex allele-specific polymerase chain reaction (PCR) (African-type Diaplex C™ G6PD kit) against PCR-restriction fragment length polymorphism and sequencing. Of 146 mutations associated with G6PD A- genotypes in 177 blood samples from Mauritanian patients, all but two samples were identified correctly using multiplex allele-specific PCR (100% sensitivity and 99% specificity; "almost perfect agreement" between allele-specific PCR and PCR-restriction fragment length polymorphism/sequencing, with a kappa coefficient of 0.977). Despite a suboptimal PCR protocol for dried blood spots and the inability of the commercial assay to predict unequivocally the G6PD enzyme level in heterozygous females, the African-type Diaplex C™ G6PD genotyping kit seemed to be a valuable screening tool for male subjects and for research purposes in resource-limited countries where spectrophotometer and DNA sequencing are not available.
Assuntos

Texto completo: 1 Coleções: 01-internacional Contexto em Saúde: 3_ND Base de dados: MEDLINE Assunto principal: Malária Vivax / Deficiência de Glucosefosfato Desidrogenase / Antimaláricos Limite: Female / Humans / Male Idioma: En Revista: Am J Trop Med Hyg Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Contexto em Saúde: 3_ND Base de dados: MEDLINE Assunto principal: Malária Vivax / Deficiência de Glucosefosfato Desidrogenase / Antimaláricos Limite: Female / Humans / Male Idioma: En Revista: Am J Trop Med Hyg Ano de publicação: 2023 Tipo de documento: Article