[Identification of mutations in the phenylalanine hydroxylase gene and exon 5 novel mutation Y166X(C-->G) in Yunnan].

OBJECTIVE: To identify the mutations of the phenylalanine hydroxylase gene in Yunnan so as to enhance the gene diagnosis of classical phenylketonuria (PKU) in that south-western province of China. METHODS: Exons 4,5,6,7,10,11 and 12 of the phenylalanine hydroxylase(PAH) were analyzed in 13/14 children affected with classical PKU from Yunnan by using PCR-single strand conformation polymorphism (PCR-SSCP),PCR-ASO dot blot hybridization,allele specific polymerase chain reaction(ASPCR) and PCR-direct sequencing. RESULTS: Five missense mutations, i.e. R243Q. (5/26), Y204C(3/28), G247V(1/26),R413P(2/28) and T418P(1/28);three nonsense mutations,i.e. Y166X(C-->G)(2/26),W326X(1/28) and Y356X(2/26);and one silent mutation(V399V)(2/26) were identified. The nonsense mutation Y166X(C-->G) should be a novel mutation as compared with the PAH Mutation Database. CONCLUSION: Five kinds of popular PAH gene mutation (R243Q,Y204C,V399V,Y356X and R413P) identified in the people of Yunnan are similar to those in the northern people, but such characteristic is different from that in the southern people. This finding will enhance the efficacy in gene diagnosis of PKU and will be of reference value for studies of population and regional difference in the pattern of PAH mutation distribution.