Table 4.
Genes | Position | Replacement | Conservation Index (%)* | WC Base Pairs* | Number of 80 Patients (%) | Number of 512 Controls (%) | χ2 P Value | Number of 2704 mtDNAs* (%) | χ2 P Value |
---|---|---|---|---|---|---|---|---|---|
tRNAGln | 4386 | T to C | 75 | 1 (1.25) | 4 (0.78) | 0.517 | 51 (1.89) | 1.000 | |
tRNAAla | 5592 | A to G | 100 | C‐G↑ | 1 (1.25) | 0 (0) | 0.135 | 3 (0.11) | 0.110 |
5601 | C to T | 50 | 2 (2.5) | 15 (2.9) | 0.709 | 37 (1.39) | 0.309 | ||
tRNACys | 5821 | G to A | 62.5 | C‐G↓ | 1 (1.25) | 12 (2.3) | 1.000 | 14 (0.52) | 0.355 |
tRNAAsp | 7546 | T to C | 100 | 1 (1.25) | 0 (0) | 0.135 | 0 (0) | 0.029 | |
tRNAGly | 10005 | A to G | 87.5 | 1 (1.25) | 0 (0) | 0.135 | 3 (0.11) | 0.110 | |
10007 | T to C | 43.8 | 1 (1.25) | 0 (0) | 0.135 | 4 (0.15) | 0.136 | ||
tRNAArg | 10454 | T to C | 50 | 1 (1.25) | 4 (0.78) | 0.517 | 11 (0.4) | 0.269 | |
tRNAHis | 12172 | A to G | 93.8 | 1 (1.25) | 5 (0.98) | 0.583 | 31 (1.15) | 0.609 | |
tRNAGlu | 14687 | A to G | 93.8 | 1 (1.25) | 1 (0.20) | 0.252 | 22 (0.81) | 0.490 | |
14693 | A to G | 100 | 2 (2.5) | 7 (1.37) | 0.349 | 10 (0.37) | 0.045 | ||
tRNAThr | 15889 | T to C | 18.8 | U‐A↓ | 2 (2.5) | 1 (0.20) | 0.049 | 3 (0.11) | 0.008 |
15927 | G to A | 68.8 | G‐C↓ | 4 (5) | 7 (1.37) | 0.048 | 44 (1.62) | 0.047 | |
15928 | G to A | 68.8 | G‐C↓ | 1 (1.25) | 2 (0.39) | 0.354 | 132 (4.88) | 0.181 | |
15930 | G to A | 12.5 | 4 (5) | 5 (0.98) | 0.023 | 37 (1.39) | 0.029 | ||
15951 | A to G | 56.25 | A‐U↓ | 1 (1.25) | 2 (0.39) | 0.354 | 22 (0.81) | 0.490 |
The conservation index (CI) was then defined as the percentage of the human nucleotide variants with 16 other vertebrates that had the wild‐type nucleotide at that position.
Classic Watson–Crick (WC) base pair: created (↑) or abolished (↓).