The consistent 13q14 translocation breakpoint seen in chronic B-cell leukaemia (BCLL) involves deletion of the D13S25 locus which lies distal to the retinoblastoma predisposition gene.

Structural rearrangements involving chromosome 13 are frequently seen in B-cell chronic lymphocytic leukaemia. The presence of reciprocal translocations involving 13q14 in 10-15% of cases pinpoints the location of a gene important in leukaemogenesis. In order to characterise the exact location of the 13q14 breakpoint, somatic cell hybrids were constructed between mouse 3T3 cells and leukaemic cells from 5 patients with translocations involving chromosome 13. Hybrid pairs were isolated which carried either of the two derivative chromosomes carrying subsections of 13 and the position of the breakpoint investigated using a series of probes along the length of the chromosome. In all cases breakpoint region associated with rhabdomyosarcoma tumours and proximal to the D13S31 locus which lies in 13q14.3. In three translocations the RB1 gene was deleted as a result of the translocation but in at least one other case the BCLL breakpoint did not involve the RB1 gene, which consistently cosegregated in hybrids carrying other proximal markers. The D13S25 probe, which lies between RB1 and D13S31, however, was deleted in the translocation retaining RB1. It appears therefore that deletion of a gene(s) in this 2Mbp region is a critical event in some cases of BCLL tumorigenesis.