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Table 1 Mitochondrial DNA variants identified in this study

From: Systematic analysis of mitochondrial genes associated with hearing loss in the Japanese population: dHPLC reveals a new candidate mutation

Gene

Mutation

Homo/heteroplasmy

prelingual HL

(N = 54)

Late-onset HL

(N = 80)

Controls

(N = 137)

freq in controls (%)

Japanese

(N = 672)a

freq in Japanese (%)

conservation indexb

Previous reportc

mtDBcM

(N = 2704)

freq in mtDB (%)

12S rRNA

663A > G

homoplasmy

3

5

2

1.5

48

7.1

29/51

yes

86

3.2

 

709G > A

homoplasmy

7

7

12

8.8

125

18.6

19/51

yes

444

16.4

 

750A > G

homoplasmy

54

80

137

100.0

no data

no data

49/51

yes

2682

96.7

 

752C > T

homoplasmy

0

0

9

6.6

17

2.5

44/51

yes

20

0.7

 

827A > G

homoplasmy

4

3

3

2.2

25

3.7

48/51

yes

54

2.0

 

904C > T

homoplasmy

1

0

0

0.0

0

0.0

48/51

none

0

0.0

 

961insC

homoplasmy

1

0

3

2.2

1

0.1

9/51

yes

37

2.0

 

961delT+ Cn

both

0

1

4(2)d

2.9

no data

no data

9/51

yes

no data

no data

 

1005T > C

both

1

1(1)

1

0.7

1

0.1

33/51

yes

7

0.3

 

1009C > T

homoplasmy

0

0

1

0.7

1

0.1

9/51

yes

2

0.1

 

1041A > G

homoplasmy

0

4

5

3.6

11

1.6

26/51

yes

14

0.5

 

1107T > C

homoplasmy

0

0

6

4.4

29

4.3

30/51

yes

34

1.26

 

1119T > C

homoplasmy

1

2

7

5.1

20

3.0

20/51

yes

26

1.0

 

1382A > C

homoplasmy

0

1

11

8.0

62

9.2

38/51

yes

65

2.4

 

1438A > G

homoplasmy

54

80

137

100.0

662

98.5

46/51

yes

2620

96.9

tRNA Ser(UCN)

7501T > A

homoplasmy

0

3

0

0.0

1

0.1

15/51

yes

1

0.0

  1. Mitochondrial gene variants that met the criterion for association with hearing loss (HL) are underlined and in bold type. aData from the mtSNP database [48]. bBased on the results of the multiple alignment by ClustalW. See Additional File 1: Table S1 for information on the species used to calculate the sequence conservation. cUppsala mtDB database [50]. dEach number in parentheses indicates the number of individuals with a heteroplasmic variant.