Análise molecular e de qualidade de vida dos pacientes e familiares com xeroderma pigmentosum, residentes em Goiás, Brasil

• Autor(a) principal: Souto, Rafael
• Data de Publicação: 2016
• Tipo de documento: Tese
• Idioma: por
• Título da fonte: Repositório Institucional da UFG
• dARK ID: ark:/38995/001300000bprx
• Texto Completo: http://repositorio.bc.ufg.br/tede/handle/tede/12613
• topic: Xeroderma pigmentosum; Xeroderma pigmentosum variant type; CIENCIAS DA SAUDE::SAUDE COLETIVA::EPIDEMIOLOGIA

Xeroderma pigmentosum (XP) variant is an autosomal recessive disease that involves changes in POLH. The study aimed to characterize the distribution of alleles mutated by Real Time PCR (RT-qPCR) in patients and families with clinical suspicion of XP, residents in Araras/Faina, State of Goiás. Additionally, we also, planned to evaluate the quality of life (QoL) by WHOQOL-Bref. In this community, the skin cancer incidence, due to this syndrome, is caused by mutation in the POLH gene, which encodes for DNA, polymerase eta, and two distinct mutations were detected, at the intron 6 e exon 8. Morover, at Trindade a different mutation was found in the same gene (intron 10). Molecular analysis by Real Time PCR (RT-qPCR) o 125 individuals at-tempted to identify the mutated alleles in POLH, which can result in disease and impact on quality of life. Of these, 29 clinically diagnosed as affected by XP syndrome, and 18 in the community of Araras/Faina and 11 are from other Goiás State locations. In Araras/Faina, of the 114 individuals analyzed, 12 were homozygous for the mutanted allele at the beginning of intron 6 (XPV 6/6), one homozygous for the mutanted allele at exon 8 (XPV8/8) and 5 are compound heterozygous for compounds two alleles (XPV 6/8). In addition, 36 patients were identified as carrying (as heterozygous) the mutation at intron 6 (XPV 6/wild-tipe) 12 carriers for muta-tion at exon 8 (8 XPV/wild-type) and 48 participants were wild type for the two alleles (XPV wild type/wild). In the study of 11 clinically affected patients and residents in other regions of the state of Goiás, 2 were positive for XPV with mutations in intron 10 (XPV 10/10) and 9 were negative for the three alleles identified in XPV. The Quality of Life evaluation gave relatively high scores when compared to the work of other groups that studied the Tourette syndrome, Wilson's disease and Thalassemia Major. In comparison using the Student t test between QoL scores of patients by XPV and not sick, it was obtained a p ≤ 0.05 for all domains of the WHOQOL-Bref, demonstrating that the XPV impacts the quality of life of those affected. However, even in a more stratified analysis , the comparison between QoL scores and genotypes for XPV, obtained a p ≤ 0.05 for the Physical and Environmental domains. Thus, we believe that molecular tests come uncovering cases of XP that were underreported showing the actual frequency of the syndrome in the state of Goiás, in addition, the measure of the perceived quality of life is showing the impact that these mutations promote affected in the XPV.