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

doi:10.1016/0002-9378(88)90022-1

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

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

Physiology

Research output: Contribution to journal › Article › peer-review

9 Scopus citations

Abstract

The availability of the complementary deoxyribonucleic acid probe for cytochrome P-450_C-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-450_C-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 language	English (US)
Pages (from-to)	545-547
Number of pages	3
Journal	American journal of obstetrics and gynecology
Volume	158
Issue number	3 PART 1
DOIs	https://doi.org/10.1016/0002-9378(88)90022-1
State	Published - Mar 1988

Keywords

Prenatal diagnosis
complementary deoxyribonucleic acid
congenital adrenal hyperplasia

ASJC Scopus subject areas

Obstetrics and Gynecology

Access to Document

10.1016/0002-9378(88)90022-1

Cite this

Prenatal diagnosis of 21-hydroxylase deficiency by the complementary deoxyribonucleic acid probe for cytochrome P-450_C-21OH . / Reindollar, Richard H.; Lewis, Jill B.; White, Perrin C. et al.
In: American journal of obstetrics and gynecology, Vol. 158, No. 3 PART 1, 03.1988, p. 545-547.

Research output: Contribution to journal › Article › peer-review

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

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.",

keywords = "Prenatal diagnosis, complementary deoxyribonucleic acid, congenital adrenal hyperplasia",

author = "Reindollar, {Richard H.} and Lewis, {Jill B.} and White, {Perrin C.} and Fernhoff, {Paul M.} and McDonough, {Paul G} and Whitney, {J. Barry}",

note = "Funding Information: From the Departments of Obstetrics and Gynecology and Cr/I and Molecular Biology, Medical College of Georgia, Augusta; Division of Medical Genetics, Department of Pediatrics, Emory Univmity, Atlanta; and Laboratory of Jmmunogenetics, Sloan-Kettering Afe morial Cancer Institute, New York. Supported in part by a Brooks Foundation Grant and a Biomedical Research Grant to R.S. Received for publication December 18, 1986; revised September 8, 1987; accepted October p, 1987. Reprint requests: Richard H. Reindollar, MD, Department of Ob-stetrics and Gynecology, New England Medical Center Hospitals, Box 36, 750 Washington St., Boston, MA 02111.",

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AU - Whitney, J. Barry

N1 - Funding Information: From the Departments of Obstetrics and Gynecology and Cr/I and Molecular Biology, Medical College of Georgia, Augusta; Division of Medical Genetics, Department of Pediatrics, Emory Univmity, Atlanta; and Laboratory of Jmmunogenetics, Sloan-Kettering Afe morial Cancer Institute, New York. Supported in part by a Brooks Foundation Grant and a Biomedical Research Grant to R.S. Received for publication December 18, 1986; revised September 8, 1987; accepted October p, 1987. Reprint requests: Richard H. Reindollar, MD, Department of Ob-stetrics and Gynecology, New England Medical Center Hospitals, Box 36, 750 Washington St., Boston, MA 02111.

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N2 - 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.

AB - 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.

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