Table 2.
CYP2D6 genotying results of HamMap samples from multiple methodologies.
| Sample # | Hapmap # | Ethnicity | RETINA | Taqman® Drug Metabolism Genotyping Assays |
Sanger sequencing |
LR PCR | CNV (TaqMan) | Final Integrated Genotype |
|---|---|---|---|---|---|---|---|---|
| 1 | NA06994 | Caucasian | *1/*1 | *1/*1 | *1/*1 | - | 2 | *1/*1 |
| 2 | NA07037 | Caucasian | *2/*4 | *2/*4 | *2/*4 | - | 2 | *2/*4 |
| 3 | NA07048 | Caucasian | *1/*4 | *1/*4 | *1/*4 | - | 2 | *1/*4 |
| 4 | NA07346 | Caucasian | *2/*2 | *2/*2 | *2/*2 | *5 | 1 | *2/*5 |
| 5 | NA11933 | Caucasian | *35/*41 | *35/*41 | *35/*41 | - | 2 | *35/*41 |
| 6 | NA11993 | Caucasian | *1/*9 | *1/*9 | *1/*9 | - | 2 | *1/*9 |
| 7 | NA12045 | Caucasian | *1/*41 | *1/*41 | *1/41 | - | 2 | *1/*41 |
| 8 | NA12058 | Caucasian | *2/*41 | *2/*41 | *2/*41 | - | 2 | *2/*41 |
| 9 | NA12287 | Caucasian | *41/*41 | *41/*41 | *41/*41 | - | 2 | *41/*41 |
| 10 | NA12399 | Caucasian | *1/*1 | *1/*1 | *1/*1 | - | 2 | *1/*1 |
| 11 | NA12718 | Caucasian | *1/*1 | *1/*1 | *1/*1 | - | 2 | *1/*1 |
| 12 | NA12750 | Caucasian | *2/*2 | *2/*2 | *2/*2 | - | 2 | *2/*2 |
| 13 | NA12751 | Caucasian | *1/*2 | *1/*2 | *1/*2 | - | 2 | *1/*2 |
| 14 | NA12775 | Caucasian | *1/*10 | *1/*10 | *1/*10 | - | 2 | *1/*10 |
| 15 | NA12814 | Caucasian | *2/*41 | *2/*41 | *2/*41 | - | 2 | *2/*41 |
| 16 | NA12827 | Caucasian | *2/*35 | *2/*35 | *2/*35 | - | 2 | *2/*35 |
| 17 | NA18501 | Yoruba | *1/*17 | *1/*17 | *1/*17 | - | 2 | *1/*17 |
| 18 | NA18502 | Yoruba | *45/*45 | *2/*2 (no *45 assay available) | *45/*45 | *5 | 1 | *5/*45 |
| 19 | NA19129 | Yoruba | *17/*17 | *17/*17 | *17/*17 | - | 2 | *17/*17 |
| 20 | NA19137 | Yoruba | *2/*17 | *2/*17 | *2/*17 | - | 3 | *2×2/*17 |
| 21 | NA19200 | Yoruba | *1/*1 | *1/*1 | *1/*1 | *5 | 1 | *1/*5 |
| 22 | NA19209 | Yoruba | *17/*17 | *17/*17 | *17/*17 | *5 | 1 | *5/*17 |
| 23 | NA06984 | Caucasian | *4/*4 | *4/*4 | *4/*4 | - | 2 | *4/*4 |
| 24 | NA10851 | Caucasian | *1/*4 | *1/*4 | *1/*4 | - | 2 | *1/*4 |
| 25 | NA11830 | Caucasian | *1/*4 | *1/*4 | *1/*4 | - | 2 | *1/*4 |
| 26 | NA11843 | Caucasian | *1/*41 | *1/*41 | *1/*41 | - | 2 | *1/*41 |
| 27 | NA11893 | Caucasian | *1/*2 | *1/*2 | *1/*2 | - | 2 | *1/*2 |
| 28 | NA11920 | Caucasian | *1/*4 | *1/*4 | *1/*4 | - | 2 | *1/*4 |
| 29 | NA12282 | Caucasian | *4/*4 | *4/*4 | *4/*4 | - | 2 | *4/*4 |
| 30 | NA12347 | Caucasian | *1/*41 | *1/*41 | *1/*41 | - | 2 | *1/*41 |
| 31 | NA12843 | Caucasian | *1/*35 | *1/*35 | *1/*35 | - | 2 | *1/*35 |
| 32 | NA12889 | Caucasian | *4/*41 | *4/*41 | *4/*41 | - | 2 | *4/*41 |
| 33 | NA18867 | Yoruba | *2/*10 | *2/*10 | *2/*10 | - | 2 | *2/*10 |
| 34 | NA18910 | Yoruba | *2/*2 | *2/*2 | *2/*2 | *5 | 1 | *2/*5 |
| 35 | NA18917 | Yoruba | *1/*17 | *1/*17 | *1/*17 | - | 2 | *1/*17 |
| 36 | NA18924 | Yoruba | *2/*4 | *2/*4 | *2/*4 | - | 3 | *2/*4×2 |
| 37 | NA19114 | Yoruba | *1/*1 | *1/*1 | *1/*1 | - | 2 | *1/*1 |
| 38 | NA19117 | Yoruba | *1/*40 | *1/*40 | *1/*40 | - | 2 | *1/*40 |
| 39 | NA19152 | Yoruba | *29/*43 | *1/*29 (no *43 assay available) | *29/*43 | - | 3 | *29/*43×2 |
| 40 | NA19171 | Yoruba | *2/*41 | *2/*41 | *2/*41 | - | 3 | *2×2/*41 |
| 41 | NA19222 | Yoruba | *1/*1 | *1/*1 | *1/*1 | - | 2 | *1/*1 |
| 42 | NA19225 | Yoruba | *17/*17 | *17/*17 | *17/*17 | - | 2 | *17/*17 |
| 43 | NA19235 | Yoruba | *1/*17 | *1/*17 | *1/*17 | - | 2 | *1/*17 |
| 44 | NA19257 | Yoruba | *1/*1 | *1/*1 | *1/*1 | - | 2 | *1/*1 |
| 45 | NA19175 | Yoruba | *1/*4 | *1/*4 | *1/*4 | - | 4 | *1/*4×3 |
| 46 | NA19147 | Yoruba | *17/*29 | *17/*29 | *17/*29 | - | 2 | *17/*29 |
| 47 | NA18505 | Yoruba | *1/*45 | *1/*2 (no *45 assay available) | *1/*45 | - | 2 | *1/*45 |
| 48 | NA18517 | Yoruba | *10/*10 | *10/*10 | *10/*10 | *5 | 1 | *5/*10 |
RETINA = Polymerase chain reaction-based real-time invader assay ; LR-PCR = long range PCR; CNV = copy number variation