Genetic studies in a semi-isolated Venezuelan population with the molecular identification of an albumin variant

Eleven protein genetic systems (seven erythrocyte enzymes and four plasma p roteins) were investigated in a semi-isolated population of German ancestry (Colonia Tovar). An albumin variant was characterized by peptide mapping, and was found to be 313 Lys-->Asn. This mutation is widespread, being found in populations from three continents, but is generally quite rare, while i n the present community its determining gene occurs in the polymorphic freq uency of 2%. Colonia Tovar presents peculiar frequencies in the PGD, ACP, E SD, TF and ALB loci, probably due to its origin from a restricted number of founders and subsequent isolation for about five generations. But this ori gin and history was not reflected in the variability of the loci considered , and the allele frequencies at these loci were not powerful enough to iden tify the German origin of the community, established through history.