Searching for Molecular Abnormalities in Genetic Diseases by the Use of a Double Labeling Technique. I. Rationale, Techniques, and Initial Evaluation

摘要

Summary: To meet the challenge of unravelling the molecular pathology of the ever expanding number of known genetic diseases in man, new efficient investigative techniques have to be designed. A procedure is presented for detection of protein defects in genetic diseases on the basis of structural rather than functional alterations. The technique is based on double labeling of normal and diseased fibroblast proteins followed by extensive fractionation and analysis. The rationale, advantages, and limitations of the procedure are discussed and the technical aspects of its use explained.Speculation: Application of double labeling to the systematic analysis of cellular proteins in inherited disorders is a valuable new tool in biochemical genetics.