Figure 1

(A) Schematic organisation of the human T-cell receptor locus on chromosome 7 containing the trypsinogen genes PRSS1, PRSS2 and TRY6 and the pseudogenes TRY5 and TRY7. The figure is not drawn to scale. Numbering according to NT_007914.14, NCBI build 36. (B) Magnification of the region investigated to map the breakpoints. The PCR fragments used to map the deletion are numbered 1–13, corresponding to the primer pairs shown in Table 1. The fragments for which a PCR product was obtained in the samples homozygous for the deletion is indicated with X; – indicates no PCR product in the homozygote samples. The deletion reported by McCaroll et al. [11] is indicated as well as the revised deletion size. (C) Fine-scaling of the breakpoints and cut-out of the fragments used to narrow down the breakpoint region. The breakpoints are marked with a red circle.