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 Citations (Scopus)

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 - 1988

Fingerprint

Cytochromes
Prenatal Diagnosis
DNA
Nuclear Family
Fetus
17-alpha-Hydroxyprogesterone
Congenital Adrenal Hyperplasia
Fetal Blood
Parents
Pregnancy
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Enzymes
Genes

Keywords

  • complementary deoxyribonucleic acid
  • congenital adrenal hyperplasia
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Medicine(all)
  • Obstetrics and Gynecology

Cite this

Prenatal diagnosis of 21-hydroxylase deficiency by the complementary deoxyribonucleic acid probe for cytochrome P-450C-21OH . / Reindollar, Richard H.; Lewis, Jill B.; White, Perrin C.; Fernhoff, Paul M.; McDonough, Paul G.; Whitney, J. Barry.

In: American Journal of Obstetrics and Gynecology, Vol. 158, No. 3 PART 1, 1988, p. 545-547.

Research output: Contribution to journalArticle

Reindollar, Richard H. ; Lewis, Jill B. ; White, Perrin C. ; Fernhoff, Paul M. ; McDonough, Paul G. ; Whitney, J. Barry. / Prenatal diagnosis of 21-hydroxylase deficiency by the complementary deoxyribonucleic acid probe for cytochrome P-450C-21OH In: American Journal of Obstetrics and Gynecology. 1988 ; Vol. 158, No. 3 PART 1. pp. 545-547.
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