Analysis of inborn errors of metabolism and other genetic defects in human fibroblasts using two-dimensional polypeptide mapping.

A standardized technique for the two-dimensional polypeptide mapping of cultured human fibroblasts has been used for the study of cellular protein variations in healthy controls, patients with inborn errors of metabolism and some other genetic defects. The analysis of about 50 gels has established that this method is very reproducible and enables the examination of about 600 polypeptides in a single gel. The inter-individual variation has been rather low (about 3%). In the gels from patients with genetic defects only very minor qualitative variations have been observed.