Table 2.
Allele frequencies (%) of the nine most common mutations from this study (bold) and selected others compared with those in other populations (minimum number of alleles = 100, with the exception of VIC, Australia) and their frequencies as reported in PAHdb (http://www.pahdb.mcgill.ca)
| Population | Number of alleles | Mutations (allele frequency %) | ||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| p.R408W | c.1315+1G>A | p.I65T | p.Y414C | p.R261Q | p.F39L | p.F299C | p.P281L | p.R243* | c.1066-11G>A | p.L48S | p.R243Q | Ex6-96A>G | p.R111* | p.R413P | ||
| NSW, Australia (this study) | 201 | 18 | 12 | 5.5 | 5.0 | 5.0 | 3.5 | 3.0 | 2.5 | 2.5 | 2.0 | 1.5 | 1.0 | 0.0 | 1.5 | 1.0 |
| VIC, Australia (Ramus et al. 1995) | 83 | 19 | 16 | 18 | 0.0 | 4.8 | 3.6 | 2.4 | 1.2 | 2.4 | 6.0 | 1.2 | 0.0 | 0.0 | 0.0 | 0.0 |
| England (Zschocke 2003) | 124 | 10 | 27 | 8.0 | 2.0 | 0.0 | 3.0 | 3.0 | 2.0 | 0.0 | 4.0 | 7.0 | 0.0 | 0.0 | 0.0 | 0.0 |
| Germany (Aulehla-Scholz and Heilbronner 2003) | 438 | 25 | 10 | 0.0 | 4.6 | 3.9 | 0.7 | 0.9 | 3.7 | 2.1 | 3.0 | 2.1 | 0.0 | 0.0 | 0.0 | 1.0 |
| Ireland (O’Donnell et al. 2002) | 558 | 41 | 2.0 | 10 | 1.0 | 0.0 | 12 | 4.0 | 0.0 | 3.0 | 1.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 |
| Lithuania (Kasnauskiene et al. 2003) | 184 | 73 | 0.0 | 0.0 | 0.5 | 0.5 | 0.0 | 0.0 | 1.0 | 0.0 | 0.5 | 0.0 | 0.0 | 0.0 | 0.5 | 0.0 |
| Denmark (Guldberg et al. 1993) | 308 | 18 | 37 | 0.0 | 10 | 2.0 | 1.0 | 0.0 | 1.0 | 0.0 | 5.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 |
| Catalonia, Spain (Mallolas et al. 1999) | 198 | 2.9 | 0.5 | 5.6 | 1.2 | 5.6 | 0.0 | 0.0 | 0.0 | 2.2 | 13 | 0.5 | 3.4 | 0.0 | 1.1 | 0.0 |
| Italy (Giannattasio et al. 2001) | 289 | 0.7 | 1.0 | 0.0 | 2.1 | 14 | 0.0 | 0.0 | 3.1 | 0.7 | 19 | 9.7 | 0.0 | 0.0 | 0.0 | 0.0 |
| Turkey (Dobrowolski et al. 2011)a | 1176 | 5.9 | 0.0 | 0.2 | 0.0 | 7.7 | 0.0 | 0.0 | 7.7 | 1.4 | 23 | 6.6 | 0.7 | 0.0 | 0.3 | 0.3 |
| Brazil (Acosta et al. 2001) | 230 | 3.5 | 1.3 | 3.5 | 0.0 | 12 | 0.0 | 0.0 | 2.1 | 0.0 | 17 | 0.8 | 1.3 | 0.0 | 0.0 | 0.0 |
| USA (Guldberg et al. 1996) | 294 | 19 | 7.8 | 4.1 | 5.4 | 2.4 | 4.1 | 1.0 | 2.7 | 1.0 | 4.4 | 1.7 | 0.0 | 0.3 | 0.3 | 0.0 |
| USA (Enns et al. 1999) | 267 | 15 | 8.2 | 4.5 | 2.6 | 1.5 | 2.2 | 2.2 | 3.4 | 0.8 | 7.2 | 2.2 | 1.1 | 0.4 | 0.4 | 0.0 |
| China, northern (Song et al. 2005) | 370 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 0.0 | 22 | 11 | 8.7 | 7.0 |
| PAHdb (Scriver et al. 2003) | 3206 | 6.7 | 2.8 | 4.1 | 3.6 | 2.1 | 1.3 | 1.4 | 2.9 | 1.1 | 5.2 | 2.0 | 0.9 | 0.5 | 0.6 | 0.4 |
aThe number of independent alleles was not clear from the data provided. Allele frequencies are calculated using total number of chromosomes tested