Table 1.
Authors | Year | Country | N
|
Number or type of mutations studied | Frequency (%) of CFTR mutations found
|
||
---|---|---|---|---|---|---|---|
AP | Controls | AP | Controls | ||||
Sharer et al. [43] | 1998 | England | 71 | 600 | 22 | 8.5% | * 5.3% |
Arduino et al. [44] | 1999 | Italy | 19 | - | 12 | 5.3% | - |
Harber et al. [45] | 1999 | Australia | 52 | 50 | 5T allele | 3.9% | 14% |
Kimura et al. [46] | 2000 | Japan | 31 | 47 | ΔF508, R117H, 5T | 9.7% | 0% |
Monaghan et al. [30] | 2000 | USA | 46 | - | 40 | 4.4% | - |
Malats et al. [47] | 2001 | Spain | 76 | - | ΔF508 e 5T | 10.5% | - |
Truninger et al. [48] | 2001 | Switzerland | 49 | - | 31 | 10.2% | - |
Gaia et al. [49] | 2002 | Italy | 21 | - | DGGE screening | 0% | - |
Bernardino et al. [33] | 2003 | Brazil | 64 | - | SSCP screening | 4.7% | - |
Perri et al. [31] | 2003 | Italy | 45 | 34 | 31 | 8.9% | 3.2% |
Pezzilli et al. [50] | 2003 | Italy | 34 | - | 29 | 23.5% | - |
Casals et al. [51] | 2004 | Spain | 37 | - | DGGE/ SSCP screening | 40.5% | - |
Fujiki et al. [52] | 2004 | Japan | 51 | 162 | 29 | 3.9% | 1.2% |
Naruse et al. [53] | 2004 | Japan | 21 | 25 | 29 | 0% | 0% |
Lee et al. [54] | 2005 | Korea | 43 | 35 | 22 | 2.4% | 0% |
Zoller et al. [55] | 2007 | Austria | 24 | - | 29 | 8.3% | - |
da Costa et al. [56] | 2009 | Brazil | 68 | 68 | 5T/7T genotype | 11.8%* | 2.9% |
P < 0.05 = statistically significant; DGGE, denaturing gradient gel electrophoresis.