Molecular genotyping of G6PD mutations and Duffy blood group in Afro-descendant communities from Brazilian Amazon



Título del documento: Molecular genotyping of G6PD mutations and Duffy blood group in Afro-descendant communities from Brazilian Amazon
Revue: Genetics and molecular biology
Base de datos: PERIÓDICA
Número de sistema: 000424538
ISSN: 1415-4757
Autores: 1
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Instituciones: 1Universidade Federal do Para, Laboratorio de Genetica Humana e Medica, Belem, Para. Brasil
Año:
Periodo: Dic
Volumen: 41
Número: 4
Paginación: 758-765
País: Brasil
Idioma: Inglés
Tipo de documento: Artículo
Enfoque: Analítico, descriptivo
Resumen en inglés Abstract Glucose-6-phosphate dehydrogenase deficiency (G6PDd) and Duffy-negative blood group are two red blood cellsvariants that confer protection against malaria. In this study, the distribution of the most common G6PD variants(G6PD*A-,GGPD*AandG6PD Mediterranean) and the major alleles of the Duffy blood group (FY*A, FY*B andFY*BES) were investigated in an Afro-descendant population from state of Pará, Brazilian Amazon. G6PD variantsand Duffy blood group alleles were determined by TaqMan SNP genotyping assay. Overall, molecular genotyping re-vealed the presence of G6PD variants in 126 (24%) of the individuals studied (5% male and 19% female), and fre-quencies of theG6PD*A-andG6PD*Aalleles were 0.061 and 0.104, respectively. Duffy blood group genotypingshowed that 24.3% of people were Duffy-negative and 41.3% were heterozygous forFY*BES. The frequency of alleleFY*BESwas 41.0%. The results emphasize the need to monitor G6PD deficiency for the use of primaquine in the rou-tine care of the Afro-descendant communities of the Trombetas, Erepecuru and Cumná rivers, evaluating the risks ofhemolytic crisis in case of recurrence of malaria in the region. In addition, the possible greater protection against ma-laria conferred by these erythrocyte polymorphisms deserves to be better investigated and explored among theseAfro-descendants
Disciplinas: Biología,
Medicina,
Química
Palabras clave: Genética,
Hematología,
Bioquímica,
Mutaciones G6PD,
Grupo sanguíneo Duffy,
Afrodescendientes,
Amazona brasileña
Keyword: Genetics,
Hematology,
Biochemistry,
G6PD mutations,
Duffy blood group,
Afro-descendants,
Brazilian Amazon
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