title: Prenatal diagnosis of DHPR deficiency by direct detection of mutation.
abstract: Prenatal diagnosis was requested by a family carrying a 3 base-pair insertion in the dihydropteridine reductase (DHPR) coding region. A chorionic villus sample was obtained and fetal DNA was isolated directly from this. Diagnosis was performed by a polymerase chain reaction (PCR)-based technique, with a simple electrophoretic assay for the insertion. The fetus was found to be heterozygous for the insertion. This is the first time that prenatal diagnosis of DHPR deficiency has been performed by direct detection of the mutation.
authors.affiliation: Murdoch Institute, Royal Children's Hospital, Parkville, Australia.
authors.forename: P M
authors.initials: PM
authors.lastname: Smooker
authors.forename: R G
authors.initials: RG
authors.lastname: Cotton
authors.forename: A
authors.initials: A
authors.lastname: Lipson
mesh_terms: D001483:Base Sequence; D015193:Chorionic Villi Sampling; D004247:DNA / Q000302:isolation & purification; D017931:DNA Primers / Q000737:chemistry; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D006579:Heterozygote; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D010661:Phenylketonurias; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
chemical_list: D017931:DNA Primers; D004247:DNA