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Table 2 Prevalence of GJB2 mutations in different areas of China

From: GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment

  

Number of NSHI

c.235delC allele

c.299_c.300delAT allele

c.176_c.191del16 allele

Uncommon mutant allele

total number of mutant alleles(%)

 

total

with two mutation

1 allele with one mutaion

number with 1 mutant allele (%)

homo

het

total (%)a

homo

het

total (%)a

homo

het

total (%)a

homo

het

total (%)a

 

Jiangsu

102

26

10

36 (35.3)

12

18

42 (67.7)

2

7

11 (17.7)

1

7

9 (14.5)

0

0

0

30.4

Nei Mongol

115

30

5

35 (30.4)

14

18

46 (70.8)

0

11

11 (16.9)

0

3

3 (4.6)

1

3

5 (7.7)

28.3

Beijing

155

37

6

43 (27.7)

24

13

61 (76.3)

0

10

10 (12.5)

0

0

0

0

9

9 (11.3)

25.8

Hebei

64

14

3

17 (26.6)

7

9

23 (74.2)

0

3

3 (9.7)

0

1

1 (3.2)

0

4

4 (12.9)

24.2

Shanghai

31

7

1

8 (25.8)

3

5

11 (73.3)

0

2

2 (13.3)

0

1

1 (6.7)

0

1

1 (6.7)

24.2

Heilongjiang

36

5

4

9 (25.0)

1

7

9 (64.3)

0

2

2 (14.3)

0

0

0

0

3

3 (21.4)

19.4

Guangdong

77

15

4

19 (24.7)

10

7

27 (79.4)

0

4

4 (11.8)

0

0

0

0

3

3 (8.8)

22.1

Sichuan

109

17

8

25 (22.9)

10

13

33 (78.6)

0

3

3 (7.1)

0

4

4 (9.5)

0

2

2 (4.8)

19.3

Shanxi

57

11

2

13 (22.8)

4

9

17 (70.8)

0

5

5 (20.8)

0

1

1 (4.2)

0

1

1 (4.2)

21.1

Gansu

42

7

2

9 (21.4)

3

5

11 (68.8)

0

3

3 (18.8)

0

0

0

0

2

2 (12.5)

19

Jilin

57

12

0

12 (21.1)

7

4

18 (75.0)

0

5

5 (21.0)

0

0

0

0

1

1 (4.0)

21.1

Fujian

48

6

4

10 (20.8)

5

4

14 (87.5)

0

1

1 (6.3)

0

0

0

0

1

1 (6.3)

16.7

Ningxia

145

20

9

29 (20.0)

8

14

30 (61.2)

1

3

5 (10.2)

0

4

4 (8.2)

0

10

10 (20.4)

16.9

Xinjiang

136

19

8

27 (19.9)

9

5

23 (50.0)

2

4

8 (17.4)

0

3

3 (6.5)

1

10

12 (26.1)

16.9

Hubei

47

7

2

9 (19.1)

6

2

14 (87.5)

0

0

0

0

0

0

0

2

2 (12.5)

17

Yunnan

230

23

19

42 (18.3)

11

14

36 (55.4)

1

3

5 (7.7)

1

2

4 (6.2)

1

18

20 (30.8)

14.1

Guiyang

138

23

2

25 (18.1)

16

9

41 (85.4)

0

6

6 (12.5)

0

0

0

0

1

1 (2.1)

17.4

Henan

126

16

5

21 (16.7)

10

8

28 (75.7)

0

5

5 (13.5)

0

0

0

0

4

4 (10.8)

14.7

Tibet

118

0

19

19 (16.1)

0

2

2 (10.5)

0

1

1 (5.3)

0

0

0

0

16

16 (84.2)

8.1

Qinghai

56

5

3

8 (14.3)

1

3

5 (38.5)

2

2

6 (46.2)

0

0

0

0

2

2 (15.4)

11.6

Anhui

35

3

2

5 (14.3)

1

4

6 (75.0)

0

1

1 (12.5)

0

1

1 (12.5)

0

0

0

11.4

Shaanxi

52

3

2

5 (9.6)

1

4

6 (75.0)

0

1

1 (12.5)

0

0

0

0

1

1 (12.5)

7.7

Guangxi

87

1

5

6 (6.9)

1

4

6 (85.7)

0

0

0

0

0

0

0

1

1 (14.3)

4

total

2063

307

125

432

164

181

345

8

82

90

2

27

29

3

95

98

17.9

  1. homo: homozygous; het: hetrozygous; apercentage of total mutant alleles identified.