Determination of phenylalanine hydroxylasegene mutation of phenylketonuria in Inner Mongolia

Objective To determine gene mutation types and frequency of phenylalanine hydroxylase (PAH) phenylketonuria(PKU) patients in Inner Mongolia Methods Exon 3 ?5?6?7?10?11 and 12 of the phenylalanine hydroxylase (PAH) gene was detected in 22 PKU patients from inner Mongolia by using PCR single strand conformation polymorphism (PCR SSCP) technique and DNA direct sequencing Results Ten point mutation type were identified the frequencies of mutation were R243Q(8/44)?R252Q(1/44)?R261Q(1/44)?G239D(1/44)?IVS7nt(2)(1/44)?Y204C(5/44)?Y356X(6/44)?R413P(1/44)?R111X(1/44) respectively a novel mutation G239D(G→A) was demonstrated in comparison with the PAH gene mutation Database Conclusion R243Q?Y356X?Y204C were most frequency mutation in Inner Mongolia The mutation frequency of Y356X is higher, R413P is lower than Northern people