The use of restriction fragment length polymorphisms in prenatal diagnosis of dihydropteridine reductase deficiency.
- 1 January 1988
- journal article
- Published by BMJ in Journal of Medical Genetics
- Vol. 25 (1) , 25-28
- https://doi.org/10.1136/jmg.25.1.25
Abstract
Using a human dihydropteridine reductase (hDHPR) cDNA probe we have detected two AvaII and one MspI restriction fragment length polymorphisms (RFLPs). We show that these RFLPs are in disequilibrium and calculate that approximately 60% of Caucasians are heterozygous for at least one RFLP. We demonstrate the usefulness of these RFLPs in prenatal diagnosis of DHPR deficiency in one family. This disorder can also be predicted by enzyme assays and we therefore discuss the relative merits of the two methods of prenatal diagnosis.Keywords
This publication has 14 references indexed in Scilit:
- Tetrahydrobiopterin non‐responsiveness in dihydropteridine reductase deficiency is associated with the presence of mutant proteinJournal of Inherited Metabolic Disease, 1986
- Clinical role of pteridine therapy in tetrahydrobiopterin deficiencyJournal of Inherited Metabolic Disease, 1985
- Differential diagnosis of tetrahydrobiopterin deficiencyJournal of Inherited Metabolic Disease, 1985
- A technique for radiolabeling DNA restriction endonuclease fragments to high specific activityAnalytical Biochemistry, 1983
- Prenatal determination of dihydropteridine reductase in a normal fetus at risk for malignant hyperphenylalaninemiaPrenatal Diagnosis, 1983
- Malignant hyperphenylalaninaemia—Current status (June 1977)Journal of Inherited Metabolic Disease, 1978
- TETRAHYDROBIOPTERIN TREATMENT OF VARIANT FORM OF PHENYLKETONURIAThe Lancet, 1975
- L-DOPA AND 5-HYDROXYTRYPTOPHAN THERAPY IN PHENYLKETONURIA WITH NORMAL PHENYLALANINE-HYDROXYLASE ACTIVITYThe Lancet, 1975
- NEW VARIANT OF PHENYLKETONURIA WITH PROGRESSIVE NEUROLOGICAL ILLNESS UNRESPONSIVE TO PHENYLALANINE RESTRICTIONThe Lancet, 1975
- A NEW MOLECULAR DEFECT IN PHENYLKETONURIAThe Lancet, 1974