Human phenylalanine hydroxylase cDNA clones, human chromosomal phenylalanine Hydroxylase gene clones and fragments thereof, their methods of production and use in diagnosing classical phenylketonuria

摘要

Described are full-length human phenylalanine hydroxylase cDNA clones, human chromosomal phenylalanine hydroxylase genes and fragments thereof, methods of their production, and the use of these in the diagnosis of the human genetic disorder, classical phenylketonuria (PKU), a hereditary disorder in phenylalanine metabolism that causes permanent mental retardation in humans, and the identification of heterozygous trait carriers as well as other linking genetic disorders. The present invention makes possible mass screening for practically all PKU families.