Table 4.
Mitochondrial 12S rRNA variants identified in this study
| Nucleotide change | Homo/heteroplasmy | NSHL (N = 658) | Freq in patients(%) | Controls (N = 462) | Freq in controls(%) | conservation indexa | Chinese (N = 1642)b | freq in Chinese(%) | Previous reportc | mtDBc (N = 2704) | Freq in mtDB (%) |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 663 A > G |
homoplasmy |
4 |
0.61 |
3 |
0.65 |
17/22(77.3% ) |
16 |
1.0 |
Yes |
86 |
3.2 |
| 681 T > C |
homoplasmy |
9 |
1.37 |
6 |
1.30 |
18/22(81.8% ) |
30 |
1.8 |
Yes |
11 |
0.4 |
| 709 G > A |
homoplasmy |
143 |
21.73 |
109 |
23.59 |
14/22(63.6% ) |
330 |
20.1 |
Yes |
444 |
16.4 |
| 735 A > G |
homoplasmy |
4 |
0.61 |
2 |
0.43 |
16/22(72.7% ) |
10 |
0.6 |
Yes |
3 |
0.1 |
| 750 A > G |
homoplasmy |
656 |
99.70 |
460 |
99.57 |
22/22(100% ) |
1638 |
99.8 |
Yes |
2682 |
96.7 |
| 752 C > T |
homoplasmy |
16 |
2.43 |
15 |
3.25 |
22/22(100% ) |
51 |
3.1 |
Yes |
20 |
0.7 |
| 789 T > C |
homoplasmy |
1 |
0.15 |
0 |
0.00 |
20/22(90.9% ) |
2 |
0.1 |
Yes |
1 |
0.0 |
| 827 A > G |
homoplasmy |
24 |
3.65 |
13 |
2.81 |
20/22(90.9% ) |
54 |
3.3 |
Yes |
54 |
2.0 |
| 961 insC |
homoplasmy |
15 |
2.28 |
1 |
0.22 |
20/22(90.9% ) |
25 |
1.5 |
Yes |
37 |
1.4 |
| 961 delT + insC |
both |
2 |
0.30 |
0 |
0.00 |
20/22(90.9% ) |
1 |
0.1 |
Yes |
no data |
no data |
| 961 T > C |
homoplasmy |
1 |
0.15 |
1 |
0.22 |
20/22(90.9% ) |
3 |
0.2 |
Yes |
37 |
1.4 |
| 979C > T |
homoplasmy |
1 |
0.15 |
0 |
0.00 |
6/22(27.3% ) |
0 |
0.0 |
Yes |
1 |
0.0 |
| 1005 T > C |
both |
29 |
4.41 |
22 |
4.76 |
9/22(40.9% ) |
72 |
4.4 |
Yes |
7 |
0.3 |
| 1009 C > T |
homoplasmy |
4 |
0.61 |
3 |
0.65 |
3/22(13.6% ) |
10 |
0.6 |
Yes |
2 |
0.1 |
| 1040 T > C |
homoplasmy |
1 |
0.15 |
0 |
0.00 |
8/22(36.4% ) |
0 |
0.0 |
Yes |
2 |
0.1 |
| 1041 A > G |
homoplasmy |
6 |
0.91 |
1 |
0.22 |
7/22(31.8% ) |
11 |
0.7 |
Yes |
14 |
0.5 |
| 1048 C > T |
homoplasmy |
17 |
2.58 |
11 |
2.38 |
13/22(59.1% ) |
48 |
2.8 |
Yes |
51 |
1.9 |
| 1095 T > C |
homoplasmy |
6 |
0.91 |
1 |
0.22 |
22/22(100% ) |
10 |
0.6 |
Yes |
5 |
0.2 |
| 1107 T > C |
homoplasmy |
46 |
6.99 |
29 |
6.28 |
18/22(81.8% ) |
103 |
6.3 |
Yes |
34 |
1.3 |
| 1119 T > C |
homoplasmy |
23 |
3.50 |
19 |
4.11 |
13/22(59.1% ) |
53 |
3.2 |
Yes |
26 |
1.0 |
| 1187 T > C |
homoplasmy |
3 |
0.46 |
1 |
0.22 |
11/22(50% ) |
0 |
0.0 |
Yes |
1 |
0.0 |
|
1222A > G |
homoplasmy |
1 |
0.15 |
0 |
0.00 |
22/22(100% ) |
0 |
0.0 |
None |
0 |
0.0 |
| 1282G > A |
homoplasmy |
2 |
0.30 |
0 |
0.00 |
13/22(59.1% ) |
0 |
0.0 |
Yes |
2 |
0.1 |
| 1382A > C |
homoplasmy |
17 |
2.58 |
11 |
2.38 |
17/22(77.3% ) |
43 |
2.6 |
Yes |
65 |
2.4 |
| 1415G > A |
homoplasmy |
1 |
0.15 |
0 |
0.00 |
8/22(36.4% ) |
1 |
0.1 |
Yes |
1 |
0.0 |
| 1438A > G |
homoplasmy |
658 |
100.00 |
461 |
99.78 |
22/22(100% ) |
1640 |
99.9 |
Yes |
2620 |
96.9 |
| 1494C > T |
homoplasmy |
4 |
0.61 |
0 |
0.00 |
18/22(81.8% ) |
3 |
0.2 |
Yes |
1 |
0.0 |
| 1520 T > C |
homoplasmy |
3 |
0.46 |
0 |
0.00 |
6/22(27.3% ) |
6 |
0.4 |
Yes |
3 |
0.1 |
| 1555A > G |
homoplasmy |
39 |
5.93 |
0 |
0.00 |
20/22(90.9% ) |
65 |
4.0 |
Yes |
12 |
0.4 |
| 1598G > A | homoplasmy | 14 | 2.13 | 10 | 2.16 | 22/22(100% ) | 49 | 3.0 | Yes | 67 | 2.5 |