Table 2.
Allelic (af) and genotypic (gf) frequencies of cathepsin C polymorphisms in patients with Papillon-Lefèvre Syndrome, their relatives and controls
| Polymorphism | Patients | Relatives | Controls | |||
|---|---|---|---|---|---|---|
|
c.203 T >; G |
|
|
|
|
|
|
| Alleles |
n = 18 |
af |
n = 34 |
af |
n = 400 |
af |
| G |
16 |
0.8889 |
13 |
0.3824 |
1 |
0.0025 |
| T |
2 |
0.1111 |
21 |
0.6176 |
399 |
0.9975 |
| Genotypes |
n = 9 |
gf |
n = 17 |
gf |
n = 200 |
gf |
| G/G |
7 |
0.7778 |
0 |
0.0000 |
0 |
0.0000 |
| T/G |
2 |
0.2222 |
13 |
0.7647 |
1 |
0.0050 |
| T/T |
0 |
0.0000 |
4 |
0.2353 |
199 |
0.9950 |
|
c.458C >; T |
|
|
|
|
|
|
| Alleles |
n = 18 |
af |
n = 34 |
af |
n = 400 |
af |
| T |
2 |
0.1111 |
3 |
0.0882 |
36 |
0.0900 |
| C |
16 |
0.8889 |
31 |
0.9118 |
364 |
0.9100 |
| Genotypes |
n = 9 |
gf |
n = 17 |
gf |
n = 200 |
gf |
| T/T |
0 |
0.0000 |
0 |
0.0000 |
0 |
0.0000 |
| C/T |
2 |
0.2222 |
3 |
0.1765 |
36 |
0.1800 |
| C/C | 7 | 0.7778 | 14 | 0.8235 | 164 | 0.8200 |