NcoI and HinfI RFLPs detected with a dihydropteridine reductase cDNA probe

Defect in dihydropteridine reductase

Parkinsonism in Association with Dihydropteridine Reductase Deficiency

We report a 16-year-old man with disorders of tetrahydrobiopterin metabolism due to dihydropteridine reductase (DHPR) deficiency. He revealed moderate mental retardation, parkinsonism, and spastic paralysis with levodopa and 5-hydroxytryptophan (5-HTP) supplementation from the age of 2 months. Brain MRI showed high intensity areas in bilateral frontal and posterior deep white matter on fluid-at...

The use of restriction fragment length polymorphisms in prenatal diagnosis of dihydropteridine reductase deficiency.

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 di...

Structure and expression of human dihydropteridine reductase.

Dihydropteridine reductase (DHPR; EC 1.6.99.7) catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin and is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. A cDNA for human DHPR was isolated from a human liver cDNA library in the vector lambda gt11 using a monospecific antibody against sheep DHPR. The nucleic acid sequence and amino acid s...

TaqL and MspL RFLPs are detected by the human 2,3-biphosphoglycerate mutase (BPGM) cDNA.

Source/Description: The XMEL4 clone is a 1.5 kb cDNA subcloned into the EcoRI site of pBluescript SKII +. XMEIA was isolated from a human melanoma cDNA library. Sequence analysis showed complete homology between XMEL4 and the 2,3-biphosphoglycerate mutase (BPGM) cDNA sequence (1, 2). Polymorphism: Both Taql and Mspl detect two-allele polymorphisms when probed with XMEIA Frequency: Allele freque...