Table 1.
FLG mutation | R501X | 2282del4 | R2447X | S3247X | Combined (four mutations) |
---|---|---|---|---|---|
Group size | 608 | 614 | 610 | 607 | 596 |
AA, n (%) | 587 (96.5) | 576 (93.8) | 604 (99.0) | 605 (99.7) | 530 (88.9) |
Aa, n (%) | 21 (3.5) | 35 (5.7) | 3 (0.5) | 2 (0.3) | 59 (9.9) |
aa, n (%) | 0 (0) | 3 (0.5) | 3 (0.5) | 0 (0) | 7 (1.2) |
Total FLG carriers (Aa + aa), n (%) | 21 (3.5) | 38 (6.2) | 6 (1.0) | 2 (0.3) | 66 (11.1) |
Wild-type allele frequency (%) | 98.3 | 96.7 | 99.3 | 99.8 | 93.9 |
Mutant allele frequency (%) | 1.7 | 3.3 | 0.7 | 0.2 | 6.1 |