Table 3.
CYP2D6 genotying results and predicted enzymatic activities of 50 human liver samples.
| Sample Number | Source ID | Ethnicity | RETINA | LR PCR | CNV (TaqMan®) | Final Integrated Genotype |
Predicted Activity Score | Predicted Metabolic Status |
|---|---|---|---|---|---|---|---|---|
| 1L | N/A | AA | *4/*4 | - | 3 | *4×2/*4 | 0 | PM |
| 2L | UC9208 | AA | *1/*29 | - | 2 | *1/*29 | 1.5 | EM |
| 3L | N/A | Caucasian | *4/*41 | - | 2 | *4/*41 | 0.5 | IM |
| 4L | N/A | Caucasian | *1/*1 | - | 2 | *1/*1 | 2.0 | EM |
| 5L | N/A | Caucasian | *2/*41 | - | 2 | *2/*41 | 1.5 | EM |
| 6L | UC9305 | Caucasian | *1/*4 | - | 2 | *1/*4 | 1.0 | EM |
| 7L | N/A | Caucasian | *1/*6 | - | 2 | *1/*6 | 1.0 | EM |
| 8L | N/A | Caucasian | *1/*4 | - | 3 | *1/*4×2 | 1.0 | EM |
| 9L | N/A | AA | *4/*17 | - | 3 | *4×2/*17 | 0.5 | IM |
| 10L | UC9306 | Caucasian | *1/*1 | - | 2 | *1/*1 | 2.0 | EM |
| 11L | UC9307 | Caucasian | *1/*2 | - | 2 | *1/*2 | 2.0 | EM |
| 12L | UC9308 | AA | *2/*4 | - | 2 | *2/*4 | 1.0 | EM |
| 13L | UC9310 | Caucasian | *2/*41 | - | 3 | *2×2/*41 | 2.5 | UM |
| 14L | N/A | Caucasian | *4/*35 | - | 2 | *4/*35 | 1.0 | EM |
| 15L | UC9406 | Caucasian | *1/*35 | - | 2 | *1/*35 | 2.0 | EM |
| 16L | UC9504 | Caucasian | *6/*6 | *5 | 1 | *5/*6 | 0 | PM |
| 17L | UC9506 | Caucasian | *1/*41 | - | 2 | *1/*41 | 1.5 | EM |
| 18L | UC9507 | Caucasian | *1/*3 | - | 2 | *1/*3 | 1.0 | EM |
| 19L | HH761 | Caucasian | *2/*59 | - | 2 | *2/*59 | 1.5 | EM |
| 20L | HH768 | AA | *1/*17 | - | 2 | *1/*17 | 1.5 | EM |
| 21L | HH659 | Caucasian | *1/*41 | - | 2 | *1/*41 | 1.5 | EM |
| 22L | HH745 | Caucasian | *2/*59 | - | 2 | *2/*59 | 1.5 | EM |
| 23L | HH775 | Caucasian | *4/*4 | - | 2 | *4/*4 | 0 | PM |
| 24L | HH776 | Caucasian | *1/*1 | - | 2 | *1/*1 | 2.0 | EM |
| 25L | HH785 | Caucasian | *1/*2 | - | 2 | *1/*2 | 2.0 | EM |
| 26L | HH789 | Caucasian | *2/*41 | - | 2 | *2/*41 | 1.5 | EM |
| 27L | HH790 | Caucasian | *1/*2 | - | 2 | *1/*2 | 2.0 | EM |
| 28L | HH792 | Caucasian | *2/*4 | - | 2 | *2/*4 | 1.0 | EM |
| 29L | HH806 | Caucasian | *2/*41 | - | 2 | *2/*41 | 1.5 | EM |
| 30L | HH824 | Caucasian | *2/*59 | - | 2 | *2/*59 | 1.5 | EM |
| 31L | HH830 | Caucasian | *41/*41 | - | 2 | *41/*41 | 1.0 | EM |
| 32L | HH839 | Caucasian | *1/*1 | *5 | 2 | *1×2/*5 | 2.0 | EM |
| 33L | HH840 | Caucasian | *4/*4 | - | 2 | *4/*4 | 0 | PM |
| 34L | HH841 | Caucasian | *2/*2 | *5 | 1 | *2/*5 | 1.0 | EM |
| 35L | HH844 | Caucasian | *4/*1 | - | 3 | *1/*4×2 | 1.0 | EM |
| 36L | HH848 | Caucasian | *1/*1 | - | 2 | *1/*1 | 2.0 | EM |
| 37L | HH850 | Caucasian | *1/*1 | - | 2 | *1/*1 | 2.0 | EM |
| 38L | HH861 | Caucasian | *35/*41 | - | 2 | *35/*41 | 1.5 | EM |
| 39L | HH864 | Caucasian | *41/*41 | *5 | 1 | *5/*41 | 0.5 | IM |
| 40L | HH870 | Caucasian | *2/*41 | - | 2 | *2/*41 | 1.5 | EM |
| 41L | HH873 | Caucasian | *4/*6 | - | 2 | *4/*6 | 0 | PM |
| 42L | HH874 | AA | *1/*41 | - | 2 | *1/*41 | 1.5 | EM |
| 43L | N/A | Caucasian | *4/*4 | - | 2 | *4/*4 | 0 | PM |
| 44L | N/A | Caucasian | *4/*4 | - | 2 | *4/*4 | 0 | PM |
| 45L | N/A | Caucasian | *35/*41 | - | 2 | *35/*41 | 1.5 | EM |
| 46L | N/A | Caucasian | *1/*1 | *5 | 1 | *1/*5 | 1.0 | EM |
| 47L | N/A | Caucasian | *1/*1 | *5 | 1 | *1/*5 | 1.0 | EM |
| 48L | N/A | Caucasian | *1/*4 | - | 2 | *1/*4 | 1.0 | EM |
| 49L | N/A | Caucasian | *4/*41 | - | 2 | *4/*41 | 0.5 | IM |
| 50L | N/A | Caucasian | *6/*35 | - | 2 | *6/*35 | 1.0 | EM |
RETINA = Polymerase chain reaction-based real-time invader assay ; LR-PCR = long-range PCR; CNV = copy number variation; PM = poor metabolizer; IM = intermediate metabolizer; EM = extensive metabolizer; UM = ultrarapid metabolizer; AA = African American; N/A = not available.