A rapid and simple electrophoretic method for the detection of mutations involving small insertion or deletion: application to β-thalassemia

The 1.8-kb β-globin gene fragments of DNAs from individuals heterozygous for nine different β-thalassemia mutations involving 1, 2, 3, 4, or 25 basepair (bp) insertions or deletions were amplified by the polymerase chain reaction (PCR). The PCR products were subjected to electrophoresis on aqueous 8% polyacrylamide gel. In each heterozygote with either a 2 to 25 bp deletion, but not with a 1 bp insertion, two slower migrating bands representing …