Alu-mediated VWF deletion followed by recombination in one family. The top portion of the figure shows the VWF gene intron-exon structure. Unequal homologous recombination between Alu Y repeats in introns 3 and 5 removes 8631bp and results in an in-frame deletion of exons 4-5. The deletion is located on an ancestral haplotype (Hap 1), present in all but one of the alleles investigated by Sutherland et al.1 A subsequent recombination event (panels 2 and 3) results in generation of haplotype 2 (Hap 2). The recombination location is likely to lie between intron 5 and exon 8. Professional illustration by Debra T. Dartez.
