Fig. 4.
Plasminogen exon 7 sequence analysis in family 1 (noncoding strand is shown in the autoradiography). Single-stranded DNA fragments with a variant migration pattern in SSCP analysis (Fig 2, bands a, a′, b, b′) were excised from polyacrylamide gel and sequenced as described in Materials and Methods. The DNA of patient 1 with ligneous conjunctivitis exhibited a homozygous point mutation (G → A) at position 780, leading to an amino acid exchange at position 216 (Arg216 → His) (right). The healthy sister and the healthy parents (Fig 2, II-1, I-1, and I-2) are heterozygous for this mutation. Sequencing of band b and b′ exhibited the wild-type sequence (left; CONTROL). Numbering of nucleotides and amino acids is rendered according to Forsgren et al52 and Petersen et al,21 respectively.