Table 1.
Degrees of heteroplasmy of coding region and D-loop mutations in bulk muscle and allelic distribution of individual mutations
| Patient | Mutations | Content in bulk muscle* |
Allelic distribution (Coding region / D-loop)** |
||||
|---|---|---|---|---|---|---|---|
| Coding region mutation | D-loop mutation | W1W2 | W1M2 | M1W2 | M1M2 | ||
| p1 | del8809-13035/T16297C | 52 % | 24 ± 3 % | 45 % | 3 % | 23 % | 29 % |
| p2 | del12103-14411/del71 | 45 % | 59 ± 2 % | 36 % | 19 % | 9% | 36 % |
| p3 | A3243G/A185Ga | 26 ± 5% | 26 ± 3 % | 55 % | 19 % | 11 % | 15 % |
| A3243G/A189G | 3 ± 1 % | 71 % | 3 % | 25 % | 0.5 % | ||
| p4 | A3243G/A185Ga | 50 ± 3 % | 21 ± 3 % | 40 % | 10 % | 40 % | 10 % |
| A3243G/A189G | 8 ± 2 % | 46 % | 4 % | 45 % | 5 % | ||
| p5 | A3243G / T72C | 66 ± 1 % | 8 ± 2 % | 32 % | 2 % | 61 % | 5 % |
| p6 | G5835Ab/T72C | 72 ± 0.5 % | 50 ± 7 % | 23 %c | 5 %c | 19 %c | 53 %c |
| p7 | del10311-15571/T72c | 51 % | 7 ± 0.5 % | 46 % | 3 % | 50 % | 1 % |
| p8 | del9098-14651/T72C | 89 % | 3 ± 1 % | 10 % | 1 % | 88 % | 1 % |
| p9 | del10198-13755/T72C | 65 % | 3 ± 1 % | 33 % | 1.7 % | 65 % | 0.3 % |
| p10 | del11032-13232/T72C | 53 % | 38 ± 1 % | 24 % | 24 % | 36 % | 16 % |
*
The degrees of heteroplasmy in skeletal muscle have been determined by Southern blotting (deletions) or RFLP analysis (point mutations). Averages ± SD are given for at least two independent determinations.
**
The allelic distribution has been determined by allele-specific PCR and restriction analysis and calculated according to the procedure described in Methods.
a
Wild type according to the Cambridge reference sequence26.
b
Novel pathogenic tRNA(Tyr) point mutation.
c
Determined from single-fiber data (33 fibers were analyzed for both G5835A and T72C).