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

H H Dahl; S Wake; R G Cotton; D M Danks

doi:10.1136/jmg.25.1.25

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

J Med Genet. 1988 Jan;25(1):25-8. doi: 10.1136/jmg.25.1.25.

Authors

H H Dahl¹, S Wake, R G Cotton, D M Danks

Affiliation

¹ Murdoch Institute for Research into Birth Defects, Royal Children's Hospital, Melbourne, Victoria, Australia.

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.

MeSH terms

Female
Genetic Linkage
Humans
Male
NADH, NADPH Oxidoreductases / deficiency*
Pedigree
Phenylketonurias*
Polymorphism, Genetic*
Polymorphism, Restriction Fragment Length*
Pregnancy
Prenatal Diagnosis / methods*

Substances

NADH, NADPH Oxidoreductases