Article
Prenatal detection of an Arg----Ter mutation at codon 111 of the PAH gene using DNA amplification.
Prenatal diagnosis - 1 May 1990
Huang S Z, Zhou X D, Ren Z R, Zeng Y T, Woo S L
Abstract excerpt
A CGA----TGA mutation at codon 111 in exon 3 of the phenylalanine hydroxylase (PAH) gene was recently identified in a Chinese phenylketonuria (PKU) patient. This paper reports the prenatal diagnosis of a Chinese fetus at risk for PKU using DNA amplification with PCR and oligonucleotide hybridizat...
Topics
- Adult
- Codon
- Electrophoresis, Agar Gel
- Female
- Humans
- Mutation
- Pedigree
- Phenylalanine Hydroxylase
- Phenylketonurias
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Pregnancy