Identificação dos polimorfismos do gene XRCC1 em pacientes com anemia falciforme

Abstract

Sickle cell disease (SCD) is an inherent disorder caused by a single nucleotide substitution. The great variability in clinical and hematological features of SCD provides a challenge in the understanding of the pathophysiological mechanisms leading to the disease. The identification of DNA polymorphisms can contribute to understand the role of the different biomarkers and their relationships with the extremely variable clinical manifestation of SCD. In order to contribute to the identification of polymorphisms in SCD, we proposed to study the distribution of the DNA repair gene XRCC1 in SCD patients and healthy control individuals. Our results indicate that the polymorphisms of the XRCC1 variant alleles 399Gln and 194Trp were not statistically different between the groups studied. We observed a tendency for the prevalence of the Gln/Gln genotype in SCD patients. The results from ongoing investigations with other polymorphisms have been elucidating the role of such biomarkers and their relationships with the clinical manifestation of SCD.