Prevalence of the factor VR506Q mutation in two Irish control populations:use of a novel nested polymerase chain reaction approach

The prevalence of factor V (FV) Leiden among normal populations has primari ly been determined using blood donors. This control group is carefully sele cted and therefore may not accurately reflect the true prevalence within th e population. We assessed the prevalence of FV Leiden within the Irish popu lation using Guthrie card samples randomly selected from all newborns. We c ompared this result with the prevalence of FV Leiden within blood donors. A novel nested polymerase chain reaction (PCR) method for FV Leiden was deve loped for analysis of the Guthrie card samples. There was no significant di fference between the allele frequency within the Guthrie card samples and b lood donors (2.07% vs. 2.35%, P = 0.66).