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Figure 1 | BMC Medical Genetics

Figure 1

From: Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome

Figure 1

Mapping the t(4;15) breakpoint and expression patterns of SNRPN exons and intronic genes . a . Schematic map of human chromosome region 15q11-q13. Black and gray circles represent imprinted genes, expressed from the paternal or maternal allele, respectively. White circles designate bi-allelically expressed genes. BP1, 2, and 3 indicate the locations of the deletion breakpoint hotspots [43]. b . FISH results placed BAC RP11-160D9 highlighted in green (nucleotide position 22577151-22735621) proximal to the translocation breakpoint and RP11-876N20 highlighted in blue (position 22857334-23036552) distal to the breakpoint. Intron 17, comprising nucleotides 22795282 to 22811656, thus is located ~ 63.4 kb downstream of RP11-160D9 and ~ 42 kb upstream of RP11-876N20. c . On representation of the SNRPN region (not drawn to scale) boxes represent exons and ESTs, lines represent snoRNA copies. Orange boxes and lines indicate exons, ESTs or snoRNAs tested for expression either by RT-PCR or quantitative RT-PCR. Black flash indicates the breakpoint in intron 17 of the SNRPN locus.

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BMC Medical Genetics

ISSN: 1471-2350

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