AFLP fingerprinting of the human genome

Elucidation of the generic basis of complex traits and diseases in humans i ncludes the use of genome-wide association studies that depend on the analy sis of a large number of diallelic markers. We describe the application of the amplified fragment length polymorphism (AFLP) technique as an efficient approach for rapidly identifying and scoring multiple variants in the huma n genome. Using a commercially available kit, we found that AFLP yields rep roducible DNA fingerprints consisting of 42-132 fragments, 8% of which show variability between individuals. These variant markers appear to be from d ifferent chromosomes, and the majority of them is diallelic. Based on the i nformation obtained in this study, it is possible to approximate the minimu m number of selective AFLP primer combinations needed to approach a desired coverage density of all chromosomes. To our knowledge, this is the first s tudy showing the general applicability of AFLP in humans and providing a co nstructive guide for the design of genomic studies in Homo sapiens with thi s robust methodology.