Article Text

PDF

The use of restriction fragment length polymorphisms in prenatal diagnosis of dihydropteridine reductase deficiency.
  1. H H Dahl,
  2. S Wake,
  3. R G Cotton,
  4. D M Danks
  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.

    Statistics from Altmetric.com

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.