Table 2 Validation data for SMARCB1 screening by HRM
From: Rapid detection of SMARCB1 sequence variation using high resolution melting
Exon Analysed | Total Sample Number | Coding sequence mutation identified by direct sequencing | Polymorphism identified by direct sequencing | Wild-type melt profiles | Variant melt profiles | False Positive Melt | False Negative melt |
|---|---|---|---|---|---|---|---|
Exon 1-1 | 14 | 0 | 0 | 13 | 1 | 1(7.1%) | 0 |
Exon1-2 | 14 | 0 | 14 dinuc GC repeat | 0 | 14 | 0 | 0 |
Exon 2 | 14 | c157C>T (3180) c157C>T (3641) | 0 | 12 | 2 | 0 | 0 |
Exon 3 | 14 | 0 | 0 | 13 | 1 | 1(7.1%) | 0 |
Exon 4 | 14 | 0 | 0 | 13 | 1 | 1(7.1%) | 0 |
Exon 5 | 14 | c601C>T (3161) c569-570 ins18 (3180) | 0 | 12 | 2 | 0 | 0 |
Exon 6 | 14 | c795+2delinsATGA (3161) | 0 | 12 | 1 | 1 (7.1%) | 0 |
Exon 7 | 14 | c933_934insAT (3331) | 4 (SNPrs35817983) | 10 | 4 | 0 | 0 |
Exon 8 | 14 | 0 | 0 | 10 | 4 | 4 (28.6%) | 0 |
Exon 9 | 14 | 0 | 5 (SNP rs5030613) | 9 | 6 | 1 (7.1%) | 0 |