Table 2.
Haplotype based estimation of gene and cluster copy numbers
| Haplotypes | SNP1 | Proband | |||||||
| DEFB104 | 1 | 2 | 3 | 4 | 1 | 2 | 3 | 4 | |
| 1 | C | A | A | T | 50 | 19 | - | 5 | |
| 2 | G | A | A | T | - | - | 16 | - | |
| 3 | G | A | G | C | 15 | 18 | 32 | 9 | |
| 4 | G | G | G | C | 65 | 10 | 16 | 58 | |
| 5 | G | A | A | C | - | - | 14 | - | |
| Ratios of single haplotypes | 3:1:4 | 2:2:1 | 1:2:1:1 | 1:1:6 | |||||
| Minimal gene copy number | 8 | 5 | 5 | 8 | |||||
| DEFB4 | 5 | 6 | 7 | 8 | 9 | 1 | 2 | 3 | 4 |
| 1 | C | C | C | G | A | 14 | - | 8 | - |
| 2 | C | T | G | G | A | - | 17 | 9 | 5 |
| 3 | T | C | C | A | G | 8 | - | 8 | - |
| 4 | T | C | C | G | G | 24 | 68 | 11 | 30 |
| Ratios of single haplotypes | 2:1:3 | 1:4 | 1:1:1:1 | 1:6 | |||||
| Minimal Gene copy number | 6 | 5 | 4 | 7 | |||||
| Minimal DEF cluster b copy number | 8 | 5 | 5 | 8 | |||||
1 SNP1: ss28489415, 2: rs2680507 = rs11774031, 3: ss28489416, 4: rs4259430, 5: rs2740090, 6: rs2740091, 7: rs2737912, 8: rs2737913, 9: rs2737531.