Table 1 Variation sites and the expected lengths of mismatch-specific endonuclease cleavage fragments for the human HBB gene
Variations Sites | Nucleotide Change | Amplicon | Mutation Type | Expected Fragment Lengths (bp) | |
|---|---|---|---|---|---|
| Â | Â | Â | Â | Observation with FAM labeling | Observation with HEX labeling |
c.-78 | A>G | B1B2 (337 bp) | Regulatory | 107 | 230 |
c.2 | T>G | B1B2 (337 bp) | Misense | 186 | 151 |
c.9 | C>T | B1B2 (337 bp) | SNP | 193 | 144 |
c.52 | A>T | B1B2 (337 bp) | Nonsense | 236 | 101 |
c.125_128 | delTCTT | B3B4 (287 bp) | Frame shift | 125 | 162 |
c.316-197 | C>T | Y3Y4 (423 bp) | Splicing | 198 | 225 |
c.316-185 | T>C | Y3Y4 (423 bp) | SNP | 210 | 213 |