Cohort 1 AmpliChip | Comparison | Cohort 2 AmpliChip | Comparison | XL-PCR + Sequencing | Dandara et al. 2001 | Gaedigk et al. 2008 | Wright et al. 2010 | ||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Allele | Activity | Black African | White Caucasian | Coloured | Indian | Fischer's Exact | Black African | White Caucasian | Coloured | Indian | Fischer's Exact | Black African | White Caucasian | Coloured | Indian | SA Venda | SA Coloureds | SA Xhosa Control | SA Xhosa Schizophrenia |
Allele Frequency (%) | |||||||||||||||||||
*1 | Normal | 30.7 | 40.0 | 38.9 | 30.0 | 0.301 | 20.0 | 31.0 | 37.5 | 60.0 | 0.715 | 25.7 | 30.0 | 30.0 | 45.0 | 50.0 | 26.8 | 23.6 | 24.5 |
*2 | Normal | 4.5 | 20.0 | 0.0 | 30.0 | 1.000 | 20. | 18.8 | 18.8 | 30.0 | 0.107 | 8.6 | 15.0 | 15.0 | 30.0 | 17.8 | 15.2 | 12.3 | 15.7 |
*4 | Absent | 2.3 | 10.0 | 16.7 | 10.0 | 0.795 | 0.0 | 31.3 | 12.5 | 0.0 | 0.586 | 0.0 | 20.0 | 15.0 | 0.0 | 3.3 | 7.1 | 1.9 | 1.0 |
*5 | Absent | 5.7 | 10.0 | 0.0 | 0.0 | 0.523 | 4.0 | 0.0 | 0.0 | 0.0 | 0.037 | 10.7 | 5.0 | 5.0 | 0.0 | 4.6 | 17.2 | 14.2 | 18.6 |
*10 | Decreased | 6.8 | 0.0 | 0.0 | 10.0 | 1.000 | 6.0 | 6.3 | 6.3 | 0.0 | 0.808 | 5.7 | 5.0 | 5.0 | 0.0 | - | 2.5 | 1.9 | 2.0 |
*14 | Absent | 0.0 | 0.0 | 0.0 | 0.0 | 1.000 | 0.0 | 0.0 | 0.0 | 0.0 | 1.000 | 0.0 | 0.0 | 0.0 | 0.0 | - | 0.5 | 0.0 | 0.0 |
*16 | Absent | - | - | - | - | - | - | - | - | - | 1.000 | 0.0 | 0.0 | 0.0 | 0.0 | - | 0.5 | 0.0 | 0.0 |
*17 | Decreased | 13.6 | 0.0 | 11.1 | 0.0 | 0.045 | 31.0 | 0.0 | 0.0 | 0.0 | 0.584 | 25.7 | 0.0 | 10.0 | 0.0 | 24.0 | 12.6 | 13.2 | 16.7 |
*22 | Normal | - | - | - | - | - | - | - | - | - | 1.000 | 0.0 | 0.0 | 0.0 | 5.0 | - | — | — | — |
*25 | Unknown | 0.0 | 0.0 | 0.0 | 0.0 | 1.000 | 1.0 | 0.0 | 0.0 | 0.0 | 0.416 | 0.0 | 0.0 | 0.0 | 0.0 | - | — | — | — |
*29 | Decreased | 13.6 | 0.0 | 0.0 | 0.0 | 1.000 | 6.0 | 0.0 | 6.3 | 0.0 | 0.598 | 4.3 | 0.0 | 5.0 | 0.0 | - | 4.6 | 13.2 | 6.9 |
*30 | Unknown | 1.1 | 0.0 | 0.0 | 0.0 | 0.461 | 0.0 | 0.0 | 0.0 | 0.0 | 1.000 | 0.0 | 0.0 | 0.0 | 0.0 | - | — | 0.0 | 0.0 |
*33 | Normal | - | - | - | - | - | - | - | - | - | 1.000 | 0.0 | 5.0 | 0.0 | 0.0 | - | — | — | — |
*35 | Normal | 0.0 | 0.0 | 0.0 | 0.0 | 1.000 | 0.0 | 0.0 | 6.3 | 0.0 | 1.000 | 0.0 | 5.0 | 0.0 | 0.0 | - | — | — | — |
*36 | Reduced | 0.0 | 0.0 | 0.0 | 0.0 | 1.000 | 0.0 | 0.0 | 0.0 | 0.0 | 1.000 | 0.0 | 0.0 | 0.0 | 0.0 | - | 0.0 | 0.0 | 0.0 |
*40 | Absent | 1.1 | 10.0 | 5.6 | 0.0 | 1.000 | 3.0 | 0.0 | 0.0 | 0.0 | 1.000 | 3.6 | 0.0 | 0.0 | 0.0 | - | 0.0 | 1.9 | 2.9 |
*41 | Decreased | 20.5 | 10.0 | 27.8 | 20.0 | 0.883 | 26.0 | 12.5 | 12.5 | 10.0 | 0.000 | 0.7 | 15.0 | 5.0 | 10. | - | 0.0 | 1.9 | 1.0 |
*43 | Normal | - | - | - | - | - | - | - | - | - | 0.272 | 0.7 | 0.0 | 5.0 | 5.0 | - | — | 0.9 | 1.0 |
*45B | Normal | - | - | - | - | - | - | - | - | - | 0.020 | 5.7 | 0.0 | 0.0 | 0.0 | - | 0.0 | 10.4 | 1.0 |
*46 | Normal | - | - | - | - | - | - | - | - | - | 1.000 | 0.7 | 0.0 | 0.0 | 0.0 | - | 0.0 | 0.0 | 0.0 |
*56B | Absent | - | - | - | - | - | - | - | - | - | 1.000 | 0.7 | 0.0 | 0.0 | 0.0 | - | 0.0 | — | — |
*59 | Decreased | - | - | - | - | - | - | - | - | - | 1.000 | 0.0 | 0.0 | 0.5 | 0.0 | - | — | — | — |
*64 | Unknown | - | - | - | - | - | - | - | - | - | 1.000 | 0.0 | 0.0 | 0.0 | 0.0 | - | 0.0 | 0.0 | 0.0 |
*65 | Unknown | - | - | - | - | - | - | - | - | - | 1.000 | 0.0 | 0.0 | 0.0 | 0.0 | - | 0.0 | 0.0 | 0.0 |
*73 | Unknown | - | - | - | - | - | - | - | - | - | 1.000 | 0.0 | 0.0 | 0.0 | 0.0 | - | — | 0.0 | 1.0 |
*74 | Unknown | - | - | - | - | - | - | - | - | - | 1.000 | 0.0 | 0.0 | 0.0 | 0.0 | - | — | 0.0 | 1.0 |
*84 | Normal | - | - | - | - | - | - | - | - | - | 1.000 | 0.7 | 0.0 | 0.0 | 0.0 | - | — | — | — |
*85 | Normal | - | - | - | - | - | - | - | - | - | 1.000 | 0.7 | 0.0 | 0.0 | 0.0 | - | — | — | — |
*86 | Normal | - | - | - | - | - | - | - | - | - | 1.000 | 0.0 | 0.0 | 0.0 | 5.0 | - | — | — | — |
*1xN | Increased | 0.0 | 0.0 | 0.0 | 0.0 | 1.000 | 0.0 | 0.0 | 0.0 | 0.0 | 1.000 | 0.0 | 0.0 | 0.0 | 0.0 | - | 0.0 | 0.0 | 1.0 |
*2xN | Increased | 0.0 | 0.0 | 0.0 | 0.0 | 1.000 | 1.0 | 0.0 | 0.0 | 0.0 | 1.000 | 0.7 | 0.0 | 0.0 | 0.0 | - | 0.0 | 2.8 | 2.9 |
*4xN | Absent | 0.0 | 0.0 | 0.0 | 0.0 | 1.000 | 0.0 | 0.0 | 0.0 | 0.0 | 0.147 | 2.9 | 0.0 | 0.0 | 0.0 | - | 0.0 | 1.9 | 2.9 |
Hybrid alleles | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | 0.0 | 0.0 | 0.0 | |
Alleles identified (n) | 88 | 10 | 18 | 10 | 100 | 16 | 16 | 10 | 140 | 20 | 20 | 20 | 152 | 198 | 106 | 102 | |||
Predicted Phenotype Frequency (%) | |||||||||||||||||||
PM | 3.5 | 83.3 | 10.0 | 0.0 | 0.0 | 10.0 | 0.0 | 0.0 | 0.0 | 10.0 | 0.0 | 0.0 | 2.6 | 3.0 | 3.8 | 7.8 | |||
IM | 28.1 | 0.0 | 20.0 | 0.0 | 42.9 | 10.0 | 20.0 | 0.0 | 42.9 | 30.0 | 50.0 | 0.0 | 56.6 | 53.0 | 47.2 | 37.3 | |||
EM | 43.9 | 0.0 | 60.0 | 50.0 | 27.1 | 60.0 | 60.0 | 50.0 | 57.1 | 60.0 | 50.0 | 100.0 | 40.8 | 39.0 | 43.4 | 47.1 | |||
UM | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 4.0 | 5.7 | 7.8 | |||
Unknown | 1.8 | 0.0 | 0.0 | 0.0 | 1.4 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | |||
No call | 7.0 | 0.0 | 0.0 | 0.0 | 5.7 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | |||
Failure | 15.8 | 16.7 | 10.0 | 40.0 | 22.9 | 20.0 | 20.0 | 50.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | |||
Cohort (n) | 57 | 6 | 10 | 10 | 70 | 10 | 10 | 10 | 70 | 10 | 10 | 10 | 76 | 99 | 53 | 51 |