[Identification of novel mutations in the phenylalanine hydroxylase gene of classical phenylketonuria].
OBJECTIVE
To investigate the mutations of phenylalanine hydroxylase (PAH) gene in the cases of classical phenylketonuria (PKU).


METHODS
The exons 3-12 of the PAH gene in 32 PKU patients from Inner Mongolia were studied by using PCR-single strand conformation polymorphism technique and DNA direct sequencing.


RESULTS
Fourteen point mutations were identified. The frequencies of mutations were R243Q (12/64), Y356X (6/64), Y204C (5/64), R261Q (2/64), Y161S (2/64), R252Q (1/64), R111X (2/64), D282G (1/64), S303P (1/64), G239D (1/64), R413P (1/64), IVS7nt+2 (2/64), IVS4nt+3 (1/64) and IVS9nt+34 (2/64). Two novel mutations IVS4nt+3 (G>C) and IVS9nt+34 (G>A) were first found. The S303P (T>C) and D282G (A>G) were first documented in Chinese PAH gene.


CONCLUSIONS
This study demonstrated the variety of the mutation type PAH gene of PKU in Inner Mongolia population, and confirmed that R243Q, Y356X, Y204C were the hot spots of PAH gene mutation.
Zhang
Junli
J
Department of Laboratory, First Affiliated Hospital, Inner Mongolia Medical College, Huhhot, Inner Mongolia, 010050 P. R. China. Junli0099@sina.com
Meng
Jun
J
Zhai
Xiaoping
X
Fang
Gen
G
Gao
Jiangang
J
Shi
Min
M
Wang
Yongxiang
Y
D001483:Base Sequence; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational
D010651:Phenylalanine Hydroxylase