Fig. 1.

CYP2D6, CYP2D7, and CYP2D8 gene arrangements and PCR amplicons used in PCR fragment analysis. Lettered lines under the structures depict PCR fragments used in analysis (Fig. 2, Table 1). Note that CYP2D8 is thought to be present in all of the structures shown but is only depicted in structure D and G for simplicity. (a) Nonduplicated CYP2D6 arrangement. The CYP2D7 pseudogene is followed by a 0.6-kb repeat, a unique 1.6-kb ‘spacer’ sequence, and rep 7. The CYP2D6 gene is next which is followed by a 0.6-kb repeat region and rep 6. (b) Typical CYP2D6 duplication arrangement. Rep dup is a hybrid containing a 5′ rep 6 sequence and a 3′ rep 7 sequence [5,6]. A multiplication structure contains two or more copies of the sequence found between the brackets. (c) The deletion arrangement lacks the coding and surrounding sequences for CYP2D6 but has CYP2D7 with the usual trailing sequence up to the rep del sequence. Rep del is a hybrid between a 5′ rep 7 and 3′ rep 6. (d) CYP2D7/CYP2D6 genes lack the CYP2D7 pseudogene and are followed by CYP2D6-related trailing sequences. (e) Single CYP2D6/CYP2D7 genes are trailed by the CYP2D7-specific sequences before transitioning into rep del. (f) CYP2D6/CYP2D7 genes found in a duplication arrangement have a 5′ recombinant gene that was trailed by a CYP2D7-specific spacer sequence and rep 7 before the 3′ CYP2D6 gene. Multiplications (not detected in this research) have multiples of the sequence shown between the brackets. (g) A CYP2D7/CYP2D6 gene in a duplication arrangement has a 5′ recombinant gene that is trailed by rep dup before the 3′ CYP2D6 gene. The chromosome lacks the CYP2D7 pseudogene.