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. Author manuscript; available in PMC: 2012 Jan 1.
Published in final edited form as: Cancer Genet. 2011 Jan;204(1):19–25. doi: 10.1016/j.cancergencyto.2010.11.001

Figure 1.

Figure 1

Family History and RNA Analysis for a Subset of Probands in the study (A) Pedigree for proband ALS009 and mutation status of the SMARCB1 splice site mutation (c.233-1G>C). (B) Reverse transcription – PCR (RT-PCR) analysis of RNA from lymphoblastoid cells from wild-type controls and ALS009 after growth in culture with and without treatment with emetine. RT-PCR performed with SMARCB1-F (5’-GACGACGGCGAGTTCTACAT-3’) in exon 2 and SMARCB1-R (5’-GGCGTCATCAACTTCTCATTCATG-3’) overlying junction of exons 5 and 6. Small arrowheads mark abnormal RNA species detected after treatment. Schematic diagram of sequence data obtained from the different mRNA species is provided. (C) Pedigree and SMARCB1 Q287X mutation status for the family of proband ALSO23. (D) Pedigree and TP53 Y205C mutation status for the family of proband ALSO46.