Figure 2 | European Journal of Human Genetics

Figure 2

From: Vascular Ehlers–Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family

Figure 2

Analysis of COL3A1 genomic sequence and of collagenous proteins synthesized in dermal fibroblasts. (a) Single amino acid codons of gDNA sequencing results for family members as indicated. (b) Protein electrophoresis studies of cultured dermal fibroblasts: Procollagens were separated under reducing conditions on SDS-PAGE. In proteins secreted into the medium from the individual with two mutant alleles (III-3), the amount of type III procollagen and collagen, α1(III)3, are reduced and the electrophoretic mobility of the proα1(III) chains (b) and of the trimer of type III collagen (c) are slowed. The amount of type III procollagen secreted by the cells from II-5 was reduced. There was subtle shift in electrophoretic mobility of some proα1(III) chains made by the cells from II-6.

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