Estudo de associação dos SNPS dos genes MLH1 e MSH2 à susceptibilidade ao desenvolvimento do carcinoma basocelular no Estado da Paraíba

• Ano de defesa: 2017
• Autor(a) principal: Calixto, Poliane da Silva
• Tipo de documento: Dissertação
• Tipo de acesso: Acesso aberto
• Idioma: por
• Instituição de defesa: Universidade Federal da Paraíba; Brasil; Biologia Celular e Molecular; Programa de Pós-Graduação em Biologia Celular e Molecular; UFPB
• Palavras-chave em Português: Carcinoma Basocelular; gene MLH1; gene MSH2; SNPs; DSASP; MSH2 gene; Basal cell carcinoma; MLH1 gene; CIENCIAS BIOLOGICAS::BIOLOGIA GERAL
• Link de acesso: https://repositorio.ufpb.br/jspui/handle/tede/9818

Basal cell carcinoma (BCC) is considered a tumor involving genetic, epigenetic and environmental factors. UVB radiation is considered to be one of the main physical agents involved in the carcinogenesis of the epidermis promoting DNA damage. In response to DNA damage the DNA repair mechanisms are activated, among them, the mismatch repair mechanism (MMR). The MMR system is an extremely important to maintain the fidelity of replication, however single nucleotide polymorphisms (SNPs) in genes involved in MMR should be considered an important factor for CBC carcinogenesis. The present study carried out the genotyping of SNPs rs560246973 (T> C), rs2303425 (-118 T> C) in the MSH2 gene and rs565410865 (G> T) in the MLH1 gene, in 100 samples of paraffin-embedded tissue from patients diagnosed with basal cell carcinoma. The results were obtained by means of the Dideoxy Single Genotype Allele Specific PCR-DSASP genotyping method. SNPs rs565410865 MLH1 and rs560246973 (C> T) MSH2 showed a statistically significant association with the susceptibility and risk of developing BCC. The results suggest that SNPs rs565410865 MLH1 and rs560246973 (C> T) MSH2 are potential molecular markers associated with susceptibility to the development of BCC in the analyzed samples. .