DNA PROBES FOR IDENTIFYING MUTATIONS IN THE HUMAN PHENYLALANINE HYDROXYLASE GENE

摘要

Disclosed is a method for detection of the mutation in phenylalanine hydroxylase genes. This method can be used for the detection of PKU affected, PKU heterozygotes and normals. Also disclosed are oligonucleotides synthesized to detect the first mutations identified in the human phenylalanine hydroxylase gene. The synthesized probes have base pair mismatches with genomic DNA to facilitate the diagnosis of normal and mutant phenylalanine hydroxylase genes. A simple method for detection of the genetic trait, PKU, without obtaining a previous family history of PKU is provided.