Fig. 4
From: Benign clear cell “sugar” tumor of the lung in a patient with Birt-Hogg-Dubé syndrome: a case report
Mutation analysis of the FLCN gene. Sequencing of exon 12 of the FLCN gene demonstrated a superimposed sequence after the CCACCCT repeat when genomic DNA isolated from the index case’s peripheral blood leukocytes was used as a template (a). Cloning of the PCR product of exon 12 identified clones carrying the wild-type sequence and those carrying an insertion of 7 nucleotides (CCACCCT) (c.1347_1353dupCCACCCT), resulting in a frame shift and premature termination of protein translation (b). In contrast, only the mutated sequence with a 7-nucleotide insertion was demonstrated when genomic DNA isolated from microdissected tumor cells was utilized as a template (c)