Genetic characterization of APOB and D17S5 AFLP loci in a sample from the Basque Country (northern Spain).

VNTR polymorphism of AFLP loci D17S5 and APOB was analyzed in 100 unrelated individuals residing in the Basque Country by PCR amplification and polyacrylamide gel electrophoresis. Population parameters were estimated to validate these loci as routine markers in human identification. Thus, although both loci showed extensive polymorphism (with gene diversities of approximately 80% for both systems) and although concordance with Hardy-Weinberg equilibrium and linkage equilibrium was observed, comparisons with other populations displayed significant differences. Moreover, further analysis of neutral parameters limits this validation to D17S5 because APOB displays excesses of both the total number of alleles and the number of rare alleles; possible reasons for this discrepancy (presence of deleterious alleles, bottleneck effect, admixture, complexity of APOB polymorphism) are discussed.