Detection and analysis the mutations in Chinese PKU gene.

Objective: To explore the characteration of the mutation in all exons of phenylalanine hydroxylase(PAH) gene.Methods: The PAH genes resulting from 40 PKU patients and 30 normal controls were screened by PCR-single strand conformation polymorphism(SSCP) and further sequencing.Results: 11 different mutations and 3 polymorphisms have been found,in which R243Q and Y204C are two more frequent mutation spots and mutation rate reach 27.5% and 10%,respectively.In additional,280insT,M276K,M276R,IVS10nt+32T→A,IVS4nt+46C→T,H290R are also novel mutations.Conclusion: The characteration of Chinese PKU gene mutation is that two mutation hotspots and large number of relatively rare mutations are existed at the same time.