Tissue Culture and Study of Cystic Fibrosis and Other Inherited Diseases

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Abstract
The general emphasis in present studies on inherited disease is upon biochemical, specifically enzymatic, aspects. Except for the still hypothetical aberrations of regulatory genes, all inherited disease should be expressed through the common pathway of an altered product of a mutant gene. The search for an altered or deficient product, usually an enzyme, has been successful increasingly often in recent years, with the elucidation of such diseases as generalized gangliosidosis (beta-galactosidase deficiency),1 Refsum's disease (phytanic acid hydroxylating enzyme deficiency),2 Fabry's disease (ceramide trihexosidase deficiency)3 and hyperuricemia with mental retardation (hypoxanthine phosphoribosyl transferase deficiency).4 For the examination of enzymes in disease, . . .