Figure 1

(A) Demonstrates the three translocation positive samples run on a 3% agarose gel electrophoresis. M: Molecular size marker pBR 327/Hae III. GC: DNA extract from the patient's Guthrie card. NTC: Non-template control. Sizes of the PCR products were: (Patient 1) 242/190 bp, (Patient 3) 183 bp and (Patient 8) 166 bp. The two fragment sizes in Patient 1, is due to inefficient nesting of one of the second round PCR primers. The identities were verified by direct sequence analysis. (B) The three patients individual chromosomal fusion regions are demonstrated. The arrows indicate the PCR primers used in the nested PCR reactions for the detection of the fusion gene (primer 1 followed by primer 2). The vertical line/box shows the site of fusion gene and the box demonstrates the base pairs introduced by the fusion gene event.