Factor v leiden and the prothrombin genes in academics from the interior of são paulo state: a study on polymorphic profile

Abstract

Thrombophilic events can be triggered for several reasons, among which the influence of the genetic factor on the predisposition to thrombus formation is highlighted. The presence of mutations in genes encoding the factors of the coagulation cascade can lead to serious damage to  the health of the individual. Thrombosis is a disease that affects 1 in 1,000 adult individuals per year and is linked to the genetic profile. Therefore, finding the mutation in both the Leiden factor V gene and the PTCR gene (prothrombin G20210A) is important for the population, since these factors are linked to blood clotting. The objective of this study is to verify the prevalence of mutations in the Leiden factor V gene and the PTCR gene in 153 individuals from the academic population of the Hermínio Ometto Foundation (FHO|Uniararas), located in the city of Araras, SP, Brazil. Samples were analyzed using the polymerase chain reaction technique, followed by enzyme restriction (PCR-RFLP). The prevalence of the Leiden factor V gene mutation was found in 10.2% (5/49) in heterozygosis of only 49 subjects studied, and the prevalence of the  mutation of the Leiden factor V gene was not found in the samples (0/153), the gene of the PTCR. Thus, it can be stated that the prevalence found in the Leiden factor V gene is within the parameters found by other authors. This study contributes to highlight the importance of researching the relationship between genetic factors and thrombolytic diseases.