Objective: To characterize the mutations of the phenylalanine hydroxylase (PAH) gene in patients with phenylketonuria in Gansu province.
Methods: Mutations of the PAH gene were detected in exons 3, 5, 6, 7, 11 and 12 with flaking introns of PAH gene by PCR and DNA sequencing.
Results: Mutations were identified in 45/58 alleles (detection rate: 96.4%), in total of 18 variants. Among them IVS12+5G>C was a novel mutation. The most frequent mutations were R243Q (22.7%), V399V (12.1%), EX6-96A>G (5.2%), R413P (5.2%) and IVS4-1G>A (5.2%), followed by Y356X (3.4%), R111X (3.4%) and INS7+2T>A (3.4%).
Conclusion: The mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Gansu province were similar to that in other areas of China, with obvious difference in mutation rate of some mutations.