Polimorfismo del gen de la banda 3 eritrocítica en grupos étnicos de Costa Rica / Polymorphism of the erythrocyte band 3 gene (EPB3) in ethnic groups of Costa Rica
Rev. biol. trop
;
52(3): 659-663, sept. 2004. tab
Artículo
en Español
| LILACS
| ID: lil-501715
ABSTRACT
Band 3 (AE1) is one of the most abundant proteins in the membrane of the human erythrocyte. This protein works as an anionic CI - and HCO3- exchanger and it also functions as an anchor for several proteins of the erythrocyte's cytoesqueleton. Several mutations have been described and many polymorphic variants have been associated to hereditary spherocytosis. The identification of a genetic marker at position 5' of the AEl gene could be associated to several molecular defects of the erythrocyte. This genetic marker is a restriction fragment length polymorphism (RFLP) produced by restriction enzime Pst I. For this polymorphism a total of 216 individuals belonging to seven different populations were analyzed one from the Central Valley, two African descendants (Lim6n and Guanacaste) and four Amerindians (Bribri, Cabecar, Maleku and Guaymi). The most frequent allele in the Amerindian population was no 1. No significant differences were found with respect to the Hardy-Weinberg equilibrium in six of the populations, although the Guaymi group does present significative differences.
Texto completo:
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Índice:
LILACS (Américas)
Asunto principal:
Polimorfismo Genético
/
Proteína 1 de Intercambio de Anión de Eritrocito
/
Frecuencia de los Genes
/
Genética de Población
Límite:
Humanos
País/Región como asunto:
America Central
/
Costa Rica
Idioma:
Español
Revista:
Rev. biol. trop
Asunto de la revista:
Biologia
/
Medicina Tropical
Año:
2004
Tipo del documento:
Artículo
País de afiliación:
Costa Rica
Institución/País de afiliación:
Universidad de Costa Rica/CR
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