Figure 2.
Inversion and disruption of the factor VIII gene mediated by the F8A gene in intron 22. (A) The genomic organization of the factor VIII gene showing the position and orientation of the three copies of the F8A genes (A) (two upstream of factor VIII and one within intron 22) and one copy of the F8B gene (B) within intron 22. Arrows indicate the direction of transcription of the factor VIII, A and B genes. (B) The homologous F8A sequences (A) within and outside the factor VIII gene mediate intrachromosomal recombination with the proximal A gene (presented here) or distal A gene. (C) The recombination product resulting in an inversion and disruption of the factor VIII gene.
