Identification of novel mutations in the phenylalanine hydroxylase gene of classical phenylketonuria.
- Author:
Junli ZHANG
1
;
Jun MENG
;
Xiaoping ZHAI
;
Gen FANG
;
Jiangang GAO
;
Min SHI
;
Yongxiang WANG
Author Information
- Publication Type:Journal Article
- MeSH: Base Sequence; DNA Mutational Analysis; Gene Frequency; Humans; Molecular Sequence Data; Mutation; Phenylalanine Hydroxylase; genetics; Phenylketonurias; genetics; Point Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational
- From: Chinese Journal of Medical Genetics 2005;22(2):134-137
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the mutations of phenylalanine hydroxylase (PAH) gene in the cases of classical phenylketonuria (PKU).
METHODSThe 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.
RESULTSFourteen 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.
CONCLUSIONThis 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.
