Analysis of factor V Leiden and prothrombin mutations in patients with suspected thrombophilia in São Paulo state-Brazil

• Main Authors: Marcos Edgar Herkenhoff, Rodrigo Gaulke, Vanessa Rosália Remualdo, Carlos André da Veiga Lima Rosa
• Format: Article
• Language: English
• Published: Sociedade Brasileira de Patologia Clínica 2013-06-01
• Series: Jornal Brasileiro de Patologia e Medicina Laboratorial
• Subjects: fator V de Leiden; mutação g1691A; protrombina; mutação G20210A; PCR em tempo real; SNP
• Online Access: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442013000300003&lng=en&tlng=en

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.