Skip to main content

Table 1 Variation sites and the expected lengths of mismatch-specific endonuclease cleavage fragments for the human HBB gene

From: Comparison of the mismatch-specific endonuclease method and denaturing high-performance liquid chromatography for the identification of HBB gene mutations

Variations Sites Nucleotide Change Amplicon Mutation Type Expected Fragment Lengths (bp)
     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