Abstract
This study was performed to establish the allele, genotype and genotype combination/SNP (single nucleotide polymorphism) profile frequencies in the general population of Cyprus for 6 genes implicated in thrombotic disorders. The genes with their respective functional polymorphisms were the following: factor V (G1691A), prothrombin/factor II (G20210A), methylenetetrahydrofolate reductase (C677T), platelet glycoprotein receptor IIIa (P1A1/A2), b-fibrinogen (G/A-455) and plasminogen activator inhibitor-type 1 (4G/5G).DNA samples from 121 unrelated individuals were used for this epidemiological study. The polymerase chain reaction followed by restriction digestion were used to genotype the 6 different polymorphic loci. Allele and genotype frequencies were established and shown to be in Hardy-Weinberg equilibrium.
Mutant allele frequencies for the 6 genes were as follows: factor V-4%, prothrombin-2%, methylenetetrahydrofolate reductase -39%, platelet glycoprotein receptor IIIa-16%, beta-fibrinogen-17% and plasminogen activator inhibitor – type 1-46%. Combined defects occurred which may increase the risk for vascular events, 33% of individuals (39/118) had 3 or more of the above mutations.
This study was performed to establish the allele, genotype and genotype combination/SNP (single nucleotide polymorphism) profile frequencies in the general population of Cyprus for 6 genes implicated in thrombotic disorders. The genes with their respective functional polymorphisms were the following: factor V (G1691A), prothrombin/factor II (G20210A), methylenetetrahydrofolate reductase (C677T), platelet glycoprotein receptor IIIa (P1A1/A2), b-fibrinogen (G/A-455) and plasminogen activator inhibitor-type 1 (4G/5G).DNA samples from 121 unrelated individuals were used for this epidemiological study. The polymerase chain reaction followed by restriction digestion were used to genotype the 6 different polymorphic loci. Allele and genotype frequencies were established and shown to be in Hardy-Weinberg equilibrium.
Mutant allele frequencies for the 6 genes were as follows: factor V-4%, prothrombin-2%, methylenetetrahydrofolate reductase -39%, platelet glycoprotein receptor IIIa-16%, beta-fibrinogen-17% and plasminogen activator inhibitor – type 1-46%. Combined defects occurred which may increase the risk for vascular events, 33% of individuals (39/118) had 3 or more of the above mutations.