Table 2.
Mutation rates for the NI extended pedigree.
| Point estimate | 95% CI Clopper Pearson | 95% CI Wilson | |||
|---|---|---|---|---|---|
| Lower | Upper | Lower | Upper | ||
| mtGenome (1–16596) | 0.058 | 0.026 | 0.110 | 0.031 | 0.108 |
| HVI (16024–16383) | 1.201 | 0.338 | 3.039 | 0.473 | 3.039 |
| HVII (57–371) | 0.343 | 0.000 | 1.930 | 0.077 | 1.930 |
| HVI/HVII (16024–16383 and 57–371) | 0.801 | 0.252 | 1.837 | 0.360 | 1.837 |
| Control region (16024–576) | 0.469 | 0.148 | 1.077 | 0.211 | 1.077 |
| Coding region (577–16023) | 0.028 | 0.008 | 0.071 | 0.011 | 0.071 |
Pedigree derived mutation rate calculated for various regions of the mtGenome. Rates are expressed in mutations per site per million years (26.9 year generation time).
mtGenome, mitochondrial genome; HVI, hypervariable region 1; HVII, hypervariable region II. All the mutations (including heteroplasmy) that were detected were considered.