The history of muscle biopsy dates back to 1860, when Duchenne first performed a biopsy on a patient with symptoms of myopathy (1) . Since then, the basic and clinical science of muscle and muscle disease has gone through three stages of development: the classical period, the modern stage and the molecular era.

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

Primeira submissão em 27/11/11 Última submissão em 09/04/12 Aceito para publicação em 16/07/12 Publicado em 20/10/12

No abstract

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.