Two-dimensional polyacrylamide gel analysis of fibroblast polypeptides: discussion of its relevance for inherited diseases.

Two-dimensional polyacrylamide gel electrophoresis has been used to resolve several hundred polypeptides from six different human fibroblast cell lines. Two of the cell lines were from normals while the other four were from patients with diseases of the type known to be due to single gene mutations. Less than 2% of the polypeptides from the different cell lines were found to differ in their electrophoretic mobility. The existence of only a small degree of polypeptide variability in pairwise comparison between cell lines suggests the possibility of employing two-dimensional gel electrophoretic comparison as a direct approach for the recognition of pathogenetically important polypeptide alterations in genetic diseases.