Human biochemical genetics of enzyme proteins in the new age of molecular genetics

Advances in protein biochemistry and immunology have had a major impact on the biochemical and genetical analysis of human proteins and have had applications in the analysis of the primary defects in metabolic disorders, as well as in cDNA cloning. The development and expansion of somatic cell genetic techniques has complemented conventional population and family study genetic methods. A large number of mammalian proteins undergo complex processing to achieve the synthesis of the biologically active protein. Much of this processing is under genetic control. Elucidation of these complexities requires a combination of biochemical, immunological and genetical approaches to determine the nature of the events involved.