Prenatal diagnosis of DHPR deficiency by direct detection of mutation
- 1 September 1993
- journal article
- case report
- Published by Wiley in Prenatal Diagnosis
- Vol. 13 (9) , 881-884
- https://doi.org/10.1002/pd.1970130912
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
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