Abstract: 【Abstract】Objective： To identify the three new mutations(A165D,Q301X and R413G) of phenylalanine hydroxylase gene by detection of the normal population. Methods： We designed the mismatch primers and extracted the genomic DNA by slating-out method, detected the patients with the mutations and 100 normal controls by using the polymerase chain reaction and the restriction enzyme digestion. Compared the results by agarose gel electrophoresis. Results： The control group was not detected the three mutant alleles except the patients. Conclusion： A165D, Q301X and R413G were three new mutations of phenylalanine hydroxylase gene, which lay the foundation for further investigation of the impact of enzymatic activity.

Key words: phenylalanine hydroxylase, phenylketonuria, mutation