Table 2.
Summary of clinical and molecular data for 21 Chinese families carrying the A1555G mutation
| Pedigree | Number of matrilineal relatives | Penetrance (including the use of drugs) (%)a | Penetrance (excluding the use of drugs) (%) | Average age-at-onset (excluding the use of drugs) | Second mtDNA mutations | mtDNA haplogroup |
|---|---|---|---|---|---|---|
| WZD31 | 12 | 66.7 | 50 | 14 | tRNAThr G15927A | B5b1 |
| WZD32 | 12 | 66.7 | 41.7 | 13 | tRNAThr G15927A | B5b1 |
| WZD33 | 27 | 51.9 | 44.4 | 16 | tRNAThr G15927A | B5b1 |
| WZD34 | 19 | 50 | 39 | 15 | tRNAThr G15927A | B5b1 |
| WZD1 [25] | 17 | 5.9 | 0 | None | B4C1C1 | |
| WZD2 | 21 | 9.5 | 4.7 | 19 | None | D4a |
| WZD3 | 16 | 12.5 | 0 | None | D5a2 | |
| WZD4 | 24 | 29.2 | 16.7 | 20 | None | F1a1 |
| WZD5 | 31 | 3.2 | 0 | None | D52b | |
| WZD6 | 8 | 25 | 12.5 | 19 | None | D4b2b |
| WZD7 | 30 | 10 | 3.3 | 21 | None | D5a2 |
| BJ101 [14] | 14 | 5 | 0 | None | F3 | |
| BJ102 | 13 | 13 | 8 | 18 | None | N9a1 |
| BJ103 | 20 | 5 | 0 | None | D4a | |
| BJ104 | 11 | 4 | 0 | None | D4b2b | |
| BJ105 [15] | 15 | 67 | 45 | tRNACys G5821A | F3 | |
| BJ106 [24] | 18 | 33 | 33 | None | M7b | |
| BJ107 [22] | 34 | 35 | 24 | tRNAThr T15908C | N | |
| BJ108 | 16 | 63 | 38 | tRNAGlu A14693G | F | |
| BJ109 | 9 | 67 | 44 | tRNAArg T10454C | M | |
| BJ110 [14] | 17 | 59 | 5.9 | CO1/tRNASer(UCN) G7444A | D4a |
mtDNA, mitochondrial DNA.
a
Affected matrilineal relatives/total matrilineal relatives.