Haplótipos de diferentes SNPs no interior do gene EWS em indivíduos afetados e não-afetados pelo sarcoma de Ewing

• Ano de defesa: 2012
• Autor(a) principal: Silva, Déborah Soares Bispo Santos
• Orientador(a): Alho, Clarice Sampaio
• Tipo de documento: Dissertação
• Tipo de acesso: Acesso aberto
• Idioma: por
• Instituição de defesa: Pontifícia Universidade Católica do Rio Grande do Sul
• Programa de Pós-Graduação: Programa de Pós-Graduação em Biologia Celular e Molecular
• Departamento: Faculdade de Biociências
• País: BR
• Palavras-chave em Português: BIOLOGIA CELULAR; BIOLOGIA MOLECULAR; GENÉTICA; SARCOMA DE EWING; NEOPLASIAS ÓSSEAS; GENES; POLIMORFISMO GENÉTICO HUMANO
• Área do conhecimento CNPq: CNPQ::CIENCIAS BIOLOGICAS::BIOLOGIA GERAL
• Link de acesso: http://tede2.pucrs.br/tede2/handle/tede/5433

Ewing s sarcoma was first described by James Ewing in 1921 and it is the second most common bone tumor in children and young adults. Both chromosomal breakage and translocation occur in this sarcoma. The EWS gene is localized in chromosome 22 and is involved in this translocation. However, little is known about this gene breaking region and what sequences could be involved in higher chromosomal break susceptibility. In this study we aimed to investigate three SNPs in the EWS gene breaking region in a healthy subjects population and in Ewing s sarcoma patients. Genotyping was performed by TaqMan® assay for allelic discrimination using Real-Time PCR System. We conducted analysis of allelic and genotypic frequencies, as well as association and transmission disequilibrium tests. According to our results, the control group showed similar and different genotypes distribution of all SNPs when compared to other populations studied by different projects, which shows how important it is to know the frequencies of our population. To test the hypothesis that some SNP, SNParrangement or haplotype could influence in the susceptibility to develop Ewing s sarcoma, we compared affected with non-affected individuals using association studies. The results showed one significant difference: a higher presence of homozygote T-rs4820804 in Ewing s Sarcoma patients. Transmission Disequilibrium Test (TDT) was performed to compare data from Ewing s Sarcoma patients and from their families but no statistically significant result was found. In conclusion, we find that the TT-rs4820804 EWS genotype can be associate with Ewing s sarcoma and that the rs4820804 SNP can be a candidate to understand the EWS breakage susceptibility.