Article Text

PDF

Prenatal diagnosis of ornithine carbamoyl transferase deficiency using a gene specific probe.
  1. M E Pembrey,
  2. J M Old,
  3. J V Leonard,
  4. C H Rodeck,
  5. R Warren,
  6. K E Davies

    Abstract

    A gene specific DNA probe has been used to predict the genotype of two fetuses in families at risk for ornithine carbamoyl transferase deficiency. Although the probe does not detect the mutation directly, prediction was possible by examining restriction fragment length polymorphisms of the parents and sibs to identify the X chromosome carrying the mutation. It is suggested that in all pregnancies, regardless of the predicted outcome, the biochemical status of carrier mothers should be monitored because hyperammonaemia and arginine deficiency may have a deleterious effect on the fetus.

    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.