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Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency.
Deficiency of human dihydropteridine reductase (hDHPR) causes malignant hyperphenylalaninemia. We report the isolation of a cDNA clone for hDHPR that spans the complete coding region, and present the nucleotide sequence and the predicted amino acid sequence. The hDHPR protein does not share extensive homology with the enzymatically related protein human dihydrofolate reductase. Patients with hDHPR deficiency were analysed for the presence of hDHPR cross-reacting protein, mRNA encoding hDHPR, and chromosomal DNA rearrangements. The results show that this inherited error of metabolism can result from a variety of mutations. However, no major rearrangements were seen in 11 patients analysed by Southern blotting. Three RFLPs were found with the restriction endonucleases AvaII and MspI. These RFLPs are useful for prenatal diagnosis of hDHPR deficiency.
PMID: 3031582 [PubMed - indexed for MEDLINE]
PMCID: PMC340608
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Cited by 11 PubMed Central articles
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Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency.
Dianzani I, Howells DW, Ponzone A, Saleeba JA, Smooker PM, Cotton RG.
J Med Genet. 1993 Jun; 30(6):465-9.
[J Med Genet. 1993]
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Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase.
Thöny B, Leimbacher W, Blau N, Harvie A, Heizmann CW.
Am J Hum Genet. 1994 May; 54(5):782-92.
[Am J Hum Genet. 1994]
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A mutation causing DHPR deficiency results in a frameshift and a secondary splicing defect.
Smooker PM, Christodoulou J, McInnes RR, Cotton RG.
J Med Genet. 1995 Mar; 32(3):220-3.
[J Med Genet. 1995]
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