Fig. 2

Overview of CYP2D locus arrangements and typical recombinant events. a A single CYP2D6 gene is located downstream of the CYP2D locus, with two pseudogenes CYP2D8/2D7 flanking at the 5′ end of the CYP2D6 gene. The position of each forward and reverse pair for amplifying the target fragments are represented by different colored arrows. b In the CYP2D6*5 deletion allele, the entire CYP2D6 is deleted from the CYP2D locus producing the new hybrid (REP DEL) containing 5′ yellow box sequence and 3′ green box sequence. c The general duplication arrangement, the hybrid REP DUP containing 5′ green box sequence and 3′ yellow box sequence were formed at 5′ of the CYP2D6 gene in case of multiple CYP2D6 gene copies occur d the 5.1 kb XL-PCR products encompass the entire CYP2D6 gene consisting of 9 exons with the four known clinically relevant point mutations located at different polymorphic sites. The 3.5 kb long fragment represents either duplications/multiplication or deletion