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Prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia using the polymerase chain reaction.

Abstract
We present an improved method for the prenatal diagnosis of congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. The polymerase chain reaction (PCR) was used to analyze DNA from an affected index case, the parents, and a cultured chorionic villus sample, for point mutations in the steroid 21-hydroxylase (CYP21) gene. We can predict that the fetus is an unaffected carrier.
AuthorsD Owerbach, M B Draznin, R J Carpenter, F Greenberg
JournalHuman genetics (Hum Genet) Vol. 89 Issue 1 Pg. 109-10 (Apr 1992) ISSN: 0340-6717 [Print] Germany
PMID1349559 (Publication Type: Journal Article)
Chemical References
  • Steroid 21-Hydroxylase
Topics
  • Adrenal Hyperplasia, Congenital (diagnosis, enzymology, genetics)
  • Base Sequence
  • Cells, Cultured
  • Female
  • Fetal Diseases (diagnosis, enzymology, genetics)
  • Humans
  • Molecular Sequence Data
  • Mutation (genetics)
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Pregnancy
  • Prenatal Diagnosis
  • Steroid 21-Hydroxylase (genetics)

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