Primeira submissão em 10/02/11 Última submissão em 01/02/12 Aceito para publicação em 14/02/12 Publicado em 20/04/12 Análise da mutação G20210A no gene da protrombina (fator II) em pacientes com suspeita de trombofilia no sul do Brasil Analysis of prothrombin G20210A mutation (factor II) in patients with suspected trombophilia in Southern Brazil
Introduction: Prothrombin (factor II) is a thrombin precursor, which induces fibrin formation. A mutation in the prothrombin gene (G20210A) has been described, which is directly associated with high prothrombin levels, hence thrombophilia. G1691A mutation in the factor V Leiden (FVL) gene occurs on exon 10, one of the main cleavage sites for protein C activation, resulting in protein alteration. Objective: To identify and estimate the genotype frequency of the three possible genotypes and the frequency of the two existing alleles in the FVL and prothrombin genes in patients with suspected thrombophilia in the state of Sao Paulo. This study may provide more literature and reference data on the incidence of prothrombin genotypes among individuals in Brazil. Material and methods: Analysis of point mutation by real time polymerase chain reaction (RT-PCR). Results: We obtained a total of 100 individuals, from which 94% had the homozygous G genotype. Only 6% had heterozygous genotype and there was no individual with the homozygous genotype A for FVL gene. As to the prothrombin gene, the frequency was 97% for homozygous G genotype and 3% for the heterozygous genotype. There was no patient with the homozygous A genotype. Conclusion: This study demonstrated that the genotype identification of these genes is advisable for patients with suspected thrombophilia in this region.
A homocisteína plasmática associada à mutação no gene da 5-metiltetra-hidrofolato (MTHFR) é considerada um fator de risco para doença coronariana. O objetivo deste trabalho foi estabelecer o número de indivíduos com essa mutação. Os exames solicitados foram enviados para o laboratório Genolab, abrangendo a cidade de Curitiba-PR. Foi utilizado o método da reação em cadeia da polimerase em tempo real (RT-PCR), tendo como base os laudos para a detecção da mutação C677T em um período dois anos. Vinte e três indivíduos possuíam o genótipo homozigoto C; nove, o homozigoto T; e 35, o heterozigoto. A detecção dessa mutação é importante para uma orientação no tratamento inicial de pacientes que possuem doenças coronarianas correlacionadas.
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