Analysis of the SLC4A1 gene in three Mexican patients with hereditary spherocytosis: report of a novel mutation

AUTOR(ES)

Sánchez-López, Josefina Y., Camacho-Torres, Ana L., Ibarra, Bertha, Tintos, Jesús A., Perea, Francisco J.

FONTE

Genetics and Molecular Biology

DATA DE PUBLICAÇÃO

18/12/2009

RESUMO

We analyzed the SLC4A1 gene in three Mexican patients with Hereditary Spherocytosis (HS). The promoter and all 20 exons were investigated through heteroduplex analysis and DNA sequencing. No DNA changes were detected in one of the three patients. Two well-known polymorphisms, Memphis I and the Diego-a blood group, were detected in another one. In the third, the HS phenotype could be explained by the novel 1885_1888dupCCGG mutation found in heterozygosis. This frameshift mutation is predicted to result in a truncated and unstable protein lacking normal functions.

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