[Advances in the studies of molecular heredity of phenylketonuria].

Phenylketonuria (PKU) is one kinds of autosomal recessive disease caused by phenylalanine hydroxylase (PAH) gene mutation. This article reviews the recent molecular heredity progress on the phenylalanine hydroxylase gene's orientation, structure, and gene mutation and gene regulation. At same time, mutation gene in vitro expression and the character of 3D structure of PAH in PKU are involved. In this paper, also discussed the influence of vitro expression and 3D protein structure by gene mutations and the molecular mechanism of the relationship between genotype and phenotype in PKU patient.