Estudo da associação dos polimorfismos dos Exons 4,5,6,18 e 19 do gene SLC4A1 em pacientes com e sem alteração de membrana eritrocitária

Abstract

Introduction The SLC4A1 gene responsible for the expression of the Band 3 (anion exchanger AE1 1), has the exons 4,5,6 involved in the expression of the band 3 Memphis and exons 18:19 linked to expression system erythrocyte polymorphisms presenting Diego very important anthropological and transfusion. Polymorphisms in this gene have also been described associated with changes in erythrocyte membrane as spherocytosis, hereditary and ovalocitose elliptocytosis. Given these associations, and the few studies in the Brazilian population, we studied associations between polymorphisms of SLC4A1 gene changes in erythrocyte membrane in hematological patients of the Hematology Foundation of Amazonas (FHEMOAM). Objective: To investigate polymorphism in exon 4, 5, 6, 18 and 19 of the SLC4A1 gene in patients with and without changes in the erythrocyte membrane. Materials and Methods: We performed AS-PCR and gene sequencing in 385 patients for hematological diagnosis. clinical and laboratory tests where associations were established with polymorphisms in the SLC4A1 gene were considered. Results: We collected 385 samples from patients and trainees 4 groups: Group A. anemic patients with poikilocytosis and / or anisocytosis Group B. anemic patients without poikilocytosis and / or anisocytosis Group C patients without anemia with poikilocytosis and / or anisocytosis and group D. healthy individuals who, on the various polymorphisms observed in our study, the SLC4A1 gene may be considered polymorphic, among them more than 5 nucleotide changes that cause changes in the sequence of amino acids that contituem protein band 3. in our studies They were also found through statistical correlations, two SNPs that are possibly associated with protection factor will anemia and 2 SNPs that are probably associated with the anemia risk factor. For exon 19 were sequenced, 302 samples, we found that the allele DI*A an incidence of 5.30%, and B*DI allele with a frequency of 94.70% and correlate the A166G (Band 3-Memphis) . Given the results, the allele was found DI * The correlated with 166A (Band 3 -Normal), so found a new variant of allele DI*A.