Prenatal detection of an Arg----Ter mutation at codon 111 of the PAH gene using DNA amplification.
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 hybridization. RFLP analysis revealed that the fetus had inherited a PKU gene from his mother, but his paternal PAH gene was uninformative. PCR amplification of 300 bp which included exon 3 plus the flanking intronic sequences of the PAH gene was performed. The amplified DNA was hybridized with a pair of allele-specific oligonucleotide probes. The results indicated that the fetal DNA carried a PAH 111 Arg----Ter mutant gene inherited from his father. Thus, the fetus was predicted to be affected with PKU.
Huang
S Z
SZ
Laboratory of Medical Genetics, Shanghai Children's Hospital, People's Republic of China.
Zhou
X D
XD
Ren
Z R
ZR
Zeng
Y T
YT
Woo
S L
SL
D000328:Adult; D003062:Codon / Q000032:analysis*; D004587:Electrophoresis, Agar Gel; D005260:Female; D006801:Humans; D009154:Mutation; D010375:Pedigree; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000175:diagnosis / Q000235:genetics; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D012333:RNA, Messenger / Q000032:analysis*
D003062:Codon; D012333:RNA, Messenger; D010651:Phenylalanine Hydroxylase