Figure 1

Genomic organization of the human defensin (DEF) gene clusters on chromosome 8p23.1. DEF cluster a is essentially single-copy, except a CNV region encompassing DEFA1A3 and DEFT1p (2 to 13 copies per diploid genome), whereas DEF cluster b as a whole is CN-variable (2 to 12 copies). Black triangle (zoomed): DEFB104 gene with the four multi site variations (MSV) investigated in this study. A: DEFA, α-defensin; B: DEFB, ß-defensin; ex = exon, p = pseudogene.