Prenatal diagnosis of 21-hydroxylase deficiency by the complementary deoxyribonucleic acid probe for cytochrome P-450C-21OH

Richard H. Reindollar, Jill B. Lewis, Perrin C. White, Paul M. Fernhoff, Paul G McDonough, J. Barry Whitney

Research output: Contribution to journalArticle

6 Scopus citations

Abstract

The availability of the complementary deoxyribonucleic acid probe for cytochrome P-450C-21OH and the identification of specific gene defects in some families with congenital adrenal hyperplasia have made prenatal diagnosis feasible. Deoxyribonucleic acid samples from amniocytes of a fetus at 16 weeks' gestation, one previously affected son, and their parents were digested with the restriction enzymes Tagl or EcoRI and hybridized to the cytochrome P-450C-21OH complementary deoxyribonucleic acid probe. The previously affected son and the fetus both lacked the Tagl 3.7 kb band. At the time of delivery, the second child had a cord blood 17α-hydroxyprogesterone level of 8000 ng/dl. The absence of the 3.7 kb Tagl fragment in affected members of this family made possible the use of deoxyribonucleic acid analysis for prenatal diagnosis.

Original languageEnglish (US)
Pages (from-to)545-547
Number of pages3
JournalAmerican journal of obstetrics and gynecology
Volume158
Issue number3 PART 1
DOIs
StatePublished - Mar 1988

Keywords

  • Prenatal diagnosis
  • complementary deoxyribonucleic acid
  • congenital adrenal hyperplasia

ASJC Scopus subject areas

  • Obstetrics and Gynecology

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