Article
[Genetic diagnosis of phenylketonuria: identification of the mutations of phenylalanine hydroxylase gene by PCR direct sequencing].
Rinsho byori. The Japanese journal of clinical pathology - 1 Oct 1992
Yamashita K, Takarada Y, Otsuka N, Kagawa S, Matsuoka A, Kalanin J
Abstract excerpt
To investigate the mutations of the phenylalanine hydroxylase (PAH) gene in Orientals, direct sequencing was conducted on DNA fragments amplified by the polymerase chain reaction, using solid phase technology involving the biotin-streptavidin system. Four mutations possibly associated with phenylketonuria (PKU) were identified in a Chinese and four Japanese patients. A novel Arg158 (CGG)-to-Trp158 (TGG) mutation...
Topics
- Asian People
- Base Sequence
- China
- Humans
- Japan
- Molecular Sequence Data
- Mutation
- Phenylalanine Hydroxylase
- Phenylketonurias
- Polymerase Chain Reaction