Jornal Brasileiro de Patologia e Medicina Laboratorial
Print version ISSN 1676-2444
HERKENHOFF, Marcos Edgar et al. Analysis of prothrombin G20210A mutation (factor II) in patients with suspected trombophilia in Southern Brazil. J. Bras. Patol. Med. Lab. [online]. 2012, vol.48, n.2, pp. 85-89. ISSN 1676-2444. http://dx.doi.org/10.1590/S1676-24442012000200003.
INTRODUCTION: Prothrombin (factor II) is a blood protein synthesized in the liver in the presence of vitamin K. It is a thrombin precursor, which induces fibrin formation. Prothrombin G20210A mutation and high prothrombin levels have been closely associated with thrombophilia. This allelic variant is a single mutation, also denominated single nucleotide polymorphism (SNP), in which guanine is replaced with adenine in the messenger ribonucleic acid (mRNA) cleavage of nucleotide 20210. The replacement is characterized by the presence of allele A and the absence of mutation in allele G. OBJECTIVE: To quantify the number of individuals homozygous for allele G, allele A and heterozygotes. The samples were collected in Paraná and Santa Catarina from January 1st, 2009 to October 10th, 2010 and were sent to Genolab Análises Genéticas. METHODS: Analysis of single mutation by polymerase chain reaction in real time (RT-PCR). RESULTS: From 243 individuals, 51.03% were from Paraná and 48.97% were from Santa Catarina. 88.89% individuals were homozygous for G genotype, none of them were homozygous for A. Only 11.11% were heterozygotes. Santa Catarina presented a higher frequency in heterozygous genotype in comparison with Paraná. CONCLUSION: This study showed that patients with suspected thrombophilia should undergo genotype identification in both states.
Keywords : Prothrombin; Mutation; G20210A; RT-PCR; SNP.