Figure 2. DNA sequence of a part of FBN1 in an unaffected and an affected individual.

An electropherogram shows a part of the sequence of FBN1 in an unaffected and an affected family member (forward strand; individuals II-6 and III-28, respectively). A heterozygous change C>T at the first base of codon 240 (CGC-C/TGC), resulting in the substitution of arginine-240 by cysteine (R240C) in the affected individual's sequence, is indicated by an arrow.