Prenatal diagnosis of DHPR deficiency by direct detection of mutation |
| |
| Authors: | Peter M Smooker Richard G H Cotton Anthony Lipson |
| |
| Institution: | 1. The Murdoch Institute, Royal Children's Hospital, Flemington Road, Parkville 3052, Australia;2. Metabolic Clinic, Royal Alexandra Hospital for Children, Camperdown 2050, Australia |
| |
| 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. |
| |
| Keywords: | Prenatal diagnosis Dihydropteridine reductase Polymerase chain reaction Mutation detection |
|
|
