Table 1.
Estimates of Mutant Allele Frequencies from Clinical Specimens
| Estimate (95% CI), % |
||||
|---|---|---|---|---|
| Gene and Mutation | Sangera | Sanger–MLE | 454–Pooled gDNA | 454–Pooled DBS |
| dhfr (n = 50) | ||||
| N51I | 80 (66.2–90) | 78.92 (63.16–100) | 70.91 (70.62–71.21) | 72.70 (72.38–73.02) |
| C59R | 86 (73.3–94.2) | 80.48 (64.56–100) | 84.61 (84.38–84.85) | 45.66 (45.30–46.02) |
| S108N | 88 (75.7–95.5) | 86.16 (67.30–100) | 90.2 (89.99–90.41) | 96.62 (96.47–96.77) |
| I164L | 0 | 0 | 0 | 0 |
| dhps (n = 46) | ||||
| S436A | NA | NA | 12.78 (12.48–13.08) | 18.41 (17.54–19.28) |
| S436Y | NA | NA | 0 | 0 |
| S436F | NA | NA | 0 | 0 |
| A437G | 60 (44.3–74.3)b | 58.45 (43.89–82.89)b | 55.11 (54.67–55.56) | 54.86 (53.75–55.98) |
| K540E | 54.3 (39–69.1) | 51.14 (40.09–68.87) | 57.88 (57.47–58.29) | 60.39 (59.46–61.33) |
| A581G | 2.2 (0–11.5) | 1.09 (0–11.69) | 6.19 (5.97–6.41) | 6.35 (5.82–6.88) |
| A613S | NA | NA | 0 | 0 |
| A613T | NA | NA | 0 | 0 |
Abbreviations: CI, confidence interval; DBS, dried blood spot; gDNA, genomic DNA; MLE, maximum likelihood estimation; NA, not available (chromatograms did not adequately cover loci).
a Percentage of mixed or mutant alleles.
b n = 45.