Figure 1.
Patterns of FISH probes used in this study. (A) Schematic representation of the probe sets used for detection of the t(11;14)(q13;q32) breakpoint in chromosome 11q13, consisting of differentially labeled (green and red) pooled cosmids and P1-derived artificial chromosomes (PACs). (Adapted from Haralambieva et al16 with permission.) (B) Schematic representation of the immunoglobulin heavy chain (IgH) gene locus and the IgH FISH probes used in the CCND1 colocalization assay. Cosmid U2-2 covers JH and part of DH gene segments and cos3/64 covers the JH, Cδ, and Cμ gene segments, as described by Southern blotting analysis with segment-specific probes22 and DNA fiber FISH mapping.23 PAC clone PAC27M16 was mapped by DNA fiber FISH and located immediately 3′ of the immunoglobulin Ca2 region (J. Guikema, E.S., and P.M.K., unpublished results, May 2003). (C-F) Segregation FISH analysis. Panels C and D both show a t(11;14)(q13;q32) translocation indicated by the presence of segregated red and green signals. Panel E shows a monoallelic translocation break with loss of the derivative chromosome der11, as indicated by the presence of a single red signal and the lack of a green signal. The colocalized signal (red/green) represents the normal allele. (F) Segregation FISH analysis showing increased copy numbers for the CCND1 locus indicated by the presence of 3 colocalized signals. (G-I) Traditional interphase FISH analysis showing a trisomy (G), a polysomy (H), or a disomy (I). Original magnification × 630 for panels C-I.