Journal: JACC: Basic to Translational Science

Article Title: FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy

doi: 10.1016/j.jacbts.2016.05.004

Figure Lengend Snippet: Affected Individuals Carry a Mutation at the Intronic Border of Exon 43 (A) Sanger sequenced chromatogram of healthy individual II:3 from family TSFDC031 with a normal FLNC gene and an affected individual from the same family (III:1) showing the FLNC c.7251+1 G>A variant. (B) Real-time polymerase chain reaction of ribonucleic acid isolated from lymphoblastoid human cells for exons 41 to 45 spanning probe showing presence of shortened product (missing 116 nucleotides, exon 43) in an affected patient (A-III:1) and normal product in healthy relatives (H-II:3 and H-III:2). (C) Diagram of normal (upper) and aberrant (lower) splicing; thick, solid line (lower) shows exon 43 being excluded. bp = base pair; nt = nucleotide.

Article Snippet: The referenced human genome sequence was used in the Genomic Short Read Nucleotide Alignment Program (GSNAP; version 2012-07-20, Thomas Wu/Genentech Inc., South San Francisco, California) .

Techniques: Mutagenesis, Variant Assay, Real-time Polymerase Chain Reaction, Isolation