Caracterização molecular de hemoglobinas S, C e BETA talassemias em pacientes do laboratório clínico da PUC-GOIÁS.

• Ano de defesa: 2014
• Autor(a) principal: Rabelo, Mariana Schwengber
• Orientador(a): Moura, Katia Karina Verolli de Oliveira
• Banca de defesa: Reis, Paulo Roberto de Melo , Santos, Fernando Antonio Vinhal dos
• Tipo de documento: Dissertação
• Tipo de acesso: Acesso aberto
• Idioma: por
• Instituição de defesa: Pontifícia Universidade Católica de Goiás
• Programa de Pós-Graduação: Genética
• Departamento: Ciências Humanas
• País: BR
• Palavras-chave em Português: Hemoglobinopatias; Talassemias; PCR
• Palavras-chave em Inglês: Hemoglobinopathies; Thalassemias; PCR
• Área do conhecimento CNPq: CNPQ::CIENCIAS BIOLOGICAS::GENETICA
• Link de acesso: https://tede2.pucgoias.edu.br/handle/tede/2399

The hemoglobinopathies are a group of heritable changes prevalent in various regions of the world, but significantly affect the Brazilian population for its abundant miscegenation. Are changes in structural genes that cause the formation of hemoglobin variants, and - or regulatory genes, causing thalassemias. Currently, the number of identified abnormal hemoglobin has increased due to improvements in methods of analysis, however, many routine laboratories are not prepared for the correct identification of these changes. In the present study aimed to assess the prevalence of hemoglobinopathies using classical methods and make the molecular characterization of mutations S, C, beta thalassemia IVS-110, IVS-1, IVS-6 and CD-39 by gene amplification using the PCR technique (Polymerase Chain Reaction). The molecular study used specific primers that bind promptly at the position of the mutated allele in position and the normal allele can thereby carry out gene allele specific amplification. 200 peripheral blood samples of patients of the Clinical Laboratory at PUC-Goiás were collected during July - December 2012-2012. The results showed the validity of the methodology in the molecular characterization of mutations, two (1%) AC patients, an one (0,5%) AS, two (1%) with mutation IVS-6 and one (0,5%) IVS-1 observed. The codon 39 and IVS-110 were not detected in any of the patients investigated.