Gaceta médica de México
versão impressa ISSN 0016-3813
CAMACHO-TORRES, Ana Luisa et al. Polymorphism analysis of G199A, Ncol in ANK1 and Memphis I in SLC4A1 genes in Mexican healthy individuals and subjects affected with hereditary spherocytosis. Gac. Méd. Méx [online]. 2006, vol.142, n.5, pp.435-437. ISSN 0016-3813.
Background. In Mexico, Hereditary Spherocytosis (HS) is the main cause of hereditary hemolytic anemia, due to mutations of one or more genes involved in the erythrocyte membrane, making it difficult to identify the primary gene. Objective. With the purpose of estimating the use of the polymorphisms G199A and Ncol of ANKl gene, and Memphis I of SLC4A1 gene, as genetic markers to screen this disease, we searched the allelic and genotypic frequencies in 45 DNA samples of HS patients and 28 from healthy individuals. Results. Allelic and genotypic frequencies were similar in both studied groups for the G199A and Memphis I polymorphisms, with low frequency of heterozygosis showing its limited use as a genetic marker. The allelic and genotypic frequencies of the Ncol polymorphism were also similar in both groups, however a higher heterozygote frequency was observed (0.49 and 0.43 in patients and healthy individuals), a feature that may turn it into a useful genetic marker. Conclusions. Since there are other genes implicated in the molecular pathology of the HS, we consider it necessary to continue analyzing other polymorphisms of the genes involved in Hereditary Spherocytosis among the Mexican population,
Palavras-chave : Hereditary Spherocytosis; gene ANK1 polymorphisms; gene SLC4A1 polymorphisms.