Table 1. Variations in mtDNA identified in the subjects.
Genetype | Nucleotide change | Amino acid change | Mutation type | Category | Patients (n) |
Controls (n) |
||
Homo-plasmy | Heteio-plasmy | Homo-plasmy | Heteio-plasmy | |||||
Mitochondrial | 709G>A | 12SrRNA | Missense | undefined | 3 | 0 | 2 | 0 |
752C>T | 12SrRNA | Missense | polymorphism | 4 | 0 | 1 | 0 | |
827A>G | 12SrRNA | Missense | pathogenic | 6 | 0 | 0 | 0 | |
961T>C | 12SrRNA | Missense | pathogenic | 2 | 0 | 0 | 0 | |
1005T>C | 12SrRNA | Missense | polymorphism | 6 | 0 | 3 | 0 | |
1048C>T | 12SrRNA | Missense | polymorphism | 2 | 0 | 0 | 0 | |
1095T>C | 12SrRNA | Missense | pathogenic | 1 | 0 | 0 | 0 | |
1119T>C | 12SrRNA | Missense | polymorphism | 3 | 0 | 0 | 0 | |
1382A>G | 12SrRNA | Missense | polymorphism | 4 | 0 | 3 | 0 | |
1438A>G | 12SrRNA | Missense | polymorphism | 125 | 0 | 112 | 0 | |
1555A>G | 12SrRNA | Missense | pathogenic | 2 | 0 | 0 | 0 | |
7445A>G | tRNASer(UCN) | Missense | pathogenic | 0 | 0 | 0 | 0 | |
7472insC | tRNASer(UCN) | Missense | pathogenic | 0 | 0 | 0 | 0 | |
7511T>C | tRNASer(UCN) | Missense | pathogenic | 0 | 0 | 0 | 0 | |
Subtotal | 158 | 0 | 121 | 0 | ||||
DM subtotal | 11 | 0 |
DM: definite deafening mutations.