[Polymorphism of the erythrocyte band 3 gene (EPB3) in ethnic groups of Costa Rica].
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
Chaves-Villalobos
M
M
Centro de Investigación en Hematología y Trastornos Afines, Universidad de Costa Rica.
Jiménez-Arce
G
G
Sandí-Díaz
M
M
D001457:Anion Exchange Protein 1, Erythrocyte / Q000235:genetics*; D044383:Black People; D003364:Costa Rica; D005787:Gene Frequency / Q000235:genetics*; D005819:Genetic Markers; D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D007197:Indians, Central American / Q000235:genetics; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D044465:White People
D001457:Anion Exchange Protein 1, Erythrocyte; D005819:Genetic Markers