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. 2010 Apr 22;47(4):281–287. doi: 10.1136/jmg.2009.070565

Figure 1.

Figure 1

Analysis of the FLCN haploid copy number. FLCN copy number status (mean±SD) was determined by quantitative polymerase chain reaction (qPCR). The representative data from exon 8 to exon 14 of the FLCN gene, and the data of two reference genes, ZNF80 and GPR15, in two patients (JBR14 and JBR18) and normal genomic DNA (calibrator) are presented. JBR14 showed the gene dosage value close to 0.5 in 6 exons (exons 9 to 14), suggesting a large genomic deletion encompassing from exon 9 to exon 14. On the other hand, JBR18 showed the gene dosage value close to 0.5 only in exon 14, suggesting a genomic deletion of exon 14 and 3′-untranslated region. The gene dosage values of the remaining exons (exons 1 to 7) for JBR14 and JBR18 were close to 1.0 (data not shown).