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Analysis of inborn errors of metabolism and other genetic defects in human fibroblasts using two‐dimensional polypeptide mapping
Author(s) -
Singh S.,
Willers I.,
Goedde H. W.,
Klose J.
Publication year - 1981
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf02263609
Subject(s) - human genetics , inborn error of metabolism , phenotype , metabolism , genetic variation , cellular metabolism , genetics , biology , mutation , biochemistry , chemistry , gene
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.