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)
				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