Abstract

PUPO BALBOA, Judith Beatriz et al. Phenotype of the nucleotide excision repair in Cuban sun-hypersensitive patients. Rev Cubana Pediatr [online]. 2014, vol.86, n.2, pp. 0-0. ISSN 0034-7531.

Introduction: deficiencies in the deoxyribonucleic acid repair mechanisms are a risk factor for cancer as is the case of xeroderma pigmentosum. Objectives: to evaluate the phenotype of nucleotide excision repair in Cuban sun hypersensitive patients with clinical suspicion of xeroderma pigmentosum at erythematopigmentary phase, by using the Comet assay alkaline variant. Methods: twenty eight patients mainly at pediatric ages were studied. The used DNA damage inducer was ultraviolet radiation C (254 nm) at 40 J/m2 dose. The DNA damage was quantified immediately after cell irradiation (0 minutes) and some time afterwards, then cultured at 37 ºC and enriched with 10 % fetal serum (45 minutes). This data allowed determining the percentage of difference in arbitrary units (AU) between both moments. Results: there was no significant differences (p= 0.080976) between the group of patients (224.23 AU) and the control group (195.43 UA). The UV-C induced DNA damage was recognized and excised in the patients with similar effectiveness to that of the controls. Conclusions: the UV-C radiation-coupled alkaline comet assay allowed clearly and indirectly identifying the functioning of the nucleotide excision repair mechanisms in which XPA to XPG proteins influence. The studied subjects did not show the classical form of this disease.

Keywords : DNA damage; DNA repair; nucleotide excision repair; single cell gel electrophoresis or Comet repair; xeroderma pigmentosum.

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