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Table 2 Allelic (af) and genotypic (gf) frequencies of cathepsin C polymorphisms in patients with Papillon-Lefèvre Syndrome, their relatives and controls

From: Identification of novel mutation in cathepsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients

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