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. Author manuscript; available in PMC: 2014 Jun 11.
Published in final edited form as: J Genet Syndr Gene Ther. 2013 Sep 18;4(8):1000177. doi: 10.4172/2157-7412.1000177

Figure 4. Mutation analysis in the girl with Bloom syndrome.

Figure 4

Electropherogams from Sanger sequencing. A: DNA from peripheral blood reveals the heterozygous mutation c.1624delG in BLM exon 7 on the sense (upper panel) and antisense (lower panel) strand. B: The other heterozygous mutation in peripheral blood DNA is c.3415C>T in BLM exon 18 shown on the sense (upper panel) and antisense (lower panel) strand. C: DNA from a lymphoblastoid cell line retains the heterozygous mutation c.1624delG on both strands, but has lost the mutation c.3415C>T (sense and antisense strand, respectively), confirming somatic reversion.