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Table 4 Frequencies of the sequence variations identified in the general population from Languedoc-Roussillon.

From: Molecular epidemiology of DFNB1 deafness in France

Name

Nucleotide change

Number of alleles

Number of chromosomes tested

Allele frequencies in % (95 % CI)

Carrier frequencies in % (95 % CI)

M34T

101T>C

81

7 032

1.15 (0.92–1.44)

2.3 (1.83–2.86)

35delG

c.35delG

96

12 586

0.76 (0.62–0.93)

1.53 (1.24–1.85)

R127H

380G>A

7

1 056

0.66 (0.29–1.42)

1.33 (0.58–2.82)

V37I

109G>A

30

7 032

0.43 (0.29–0.62)

0.85 (0.58–1.24)

V153I

457G>A

4

1 056

0.38 (0.12–1.04)

0.76 (0.14–1.79)

F83L

249C>G

3

1 056

0.28 (0.07–0.90)

0.57 (0.14–1.79)

V27I

79G>A

10

7 032

0.14 (0.07–0.27)

0.28 (0.14–0.58)

E114G

341A>G

1

1 056

0.09 (0.005–0.61)

0.19 (0.009–1.22)

DelE120

358-360delGAG

1

1 056

0.09 (0.005–0.61)

0.19 (0.009–1.22)

G160S

478G>A

1

1 056

0.09 (0.005–0.61)

0.19 (0.009–1.22)

D159D*

477C>T

1

1 056

0.09 (0.005–0.61)

0.19 (0.009–1.22)

W24X

71G>A

5

7 032

0.07 (0.03–0.18)

0.14 (0.06–0.36)

E47X

139G>T

4

7 032

0.06 (0.02–0.16)

0.11 (0.04–0.32)

Y68C*

203A>G

3

7 032

0.04 (0.01–0.14)

0.09 (0.02–0.28)

W44X

132G>A

1

7 032

0.014 (0.007–0.092)

0.03 (0.01–0.18)

R32H

95G>A

1

7 032

0.014 (0.007–0.092)

0.03 (0.01–0.18)

S19T

56G>C

1

7 032

0.014 (0.007–0.092)

0.03 (0.01–0.18)

IVS1-7G>A*

 

1

7 032

0.014 (0.007–0.092)

0.03 (0.01–0.18)

G4D*

11G>A

1

7 032

0.014 (0.007–0.092)

0.03 (0.01–0.18)

Q7Q*

21G>A

1

7 032

0.014 (0.007–0.092)

0.03 (0.01–0.18)

T26T*

78C>T

1

7 032

0.014 (0.007–0.092)

0.03 (0.01–0.18)

H67R*

200A>G

1

7 032

0.014 (0.007–0.092)

0.03 (0.01–0.18)

  1. *: novel sequence changes.