Fig. 1.
HinfI assay for detection of Asp816Val c-kit mutation.
Digestion of the 212 bp exon 17 polymerase chain reaction (PCR) product gives rise to a 161 bp DNA fragment r: when an A-T transition is present, an additional HinfI site is created leading to a 147 bp DNA fragment. This additional fragment was present in patients 2, 5, 8, 13 and 15 as well as in a patient with systemic mastocytosis included as positive control (lane C+). The negative controls were undigested (lane C0) and digested (lane C−) DNAs from normal subjects. Molecular assay at follow up (5a and 15a) is also shown for patients 5 and 15.
