Table 2.
Carrier frequency of 11 mutations in eight primary ciliary dyskinesia-associated genes
| Genes | Mutations | No. of individuals wild type | No. of. individuals heterozygous carrier1 | Carrier frequency (%) and confidence interval (%) |
|---|---|---|---|---|
| DNAI1 | c.1490G>A | 1052 | 3 | 0.28 (0.09–0.83) |
| DNAI2 | c.1304G>A | 1000 | 5 | 0.50 (0.21–1.16) |
| DNAH11 | c.6244C>T | 1052 | 0 | 0.00 |
| DNAH11 | c.11929G>T | 1051 | 1 | 0.10 (0.02–0.54) |
| DNAH5 | c.6988+2T>C | 1050 | 0 | 0.00 |
| DNAH5 | c.7502G>C | 1036 | 6 | 0.58 (0.27–1.26) |
| DNAH5 | c.5545G>A | 1051 | 0 | 0.00 |
| CCDC40 | c.248delC | 1052 | 0 | 0.00 |
| CCDC65 | c.877_878delAT | 1032 | 3 | 0.29 (0.10–0.85) |
| CCDC114 | c.939delT | 1054 | 2 | 0.19 (0.05–0.69) |
| C21orf59 | c.735C>G | 1031 | 5 | 0.48 (0.20–1.12) |
1
None of the individuals were identified as being homozygous for the mutations.