Skip to main content

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