Gene Therapy and Molecular Biology Vol 10, page 169
Figure 2. Representation of the internal tandem duplication found ordered by sample. Colors identified different patients. Group 1 red and green. Group 2 orange and blue. Group 3 pink and yellow.
Figure 3. Upper: Sequence and scheme of 4 exemplificative samples. White-boxes: exons; black-boxes: tandem duplication; square-box: intron fragment. ITDs are highlighted in bolded character and are underlined together with the previous exonic similar sequence. Lower: Genescan electropherograms of the same samples. Red line molecular weight markers, blue line PCR products. White arrows indicate wild-type amplicon peak, black arrows point to ITD peaks. Panel A: normal peripheral blood. Panel B: sample #400 with a 18 bp ITD. Panel C: sample #447 with two ITDs of 30 and 81 bp, respectively. Panel D: sample #380. This sample had two ITD with the same length (21 bp) but Genescan analysis was not able to discriminate them. Panel E: sample #089 with a very small peak corresponding to the ITD.
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