Figure 4

DHPLC A. DHPLC was used to detect an aberrant migration pattern (green) in the proband's DNA. The arrow indicates the polymorphism that correlates with the 2 bp deletion. B. Sequence analysis of LMNA exon 5 amplified directly from the proband's DNA revealed double-banding indicative of a frameshift mutation. To isolate the mutant allele, SSCP was used. Sequence of the mutant allele revealed a two bp deletion (top sequence). This deletion is predicted to truncate lamin A/C at amino acid 302 and add a novel 26 amino acids. The predicted protein product, if made, would be approximately 37 KDa and would disrupt the helical nature of lamin A/C and lack the carboxy-terminal globular region.