Biochemical Genetics and Man: Accomplishments and Problems

Publisher Website
Google Scholar
Abstract
Genetic studies in man have given insight into the mechanism of gene action and have provided examples of mechanisms 1st investigated in other organisms. Studies of inherited hemoglobin variants 1st demonstrated that determination of the primary structure of proteins is a function of genes. Investigation of Y-globulins has led to the concept that all proteins may not show the somatic stability of gene structure characteristic of hemoglobins. In addition, somatic mosaicism for more stable characteristics may increase the phenotype variability in some persons. Two examples of mutations in man which can be most readily explained by systems of gene regulation of the Jacob-Monod type are von Willebrand''s disease (vascular hemophilia) and oroticaciduria. In addition, some structural genes seem to be regulated in part by the structure of the gene itself, including portions far removed from the regions where an operator would be expected. Still another system of regulation, chromosomal inactivation, accounts for balance of genes on the X chromosome in females.