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

  


Authors: Reindollar, R. H.; Lewis, J. B.; White, P. C.; Fernhoff, P. M.; McDonough, P. G.; Whitney, J. B. 3rd
Article Title: Prenatal diagnosis of 21-hydroxylase deficiency by the complementary deoxyribonucleic acid probe for cytochrome P-450(C-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. © 1988.
Keywords: case report; pedigree; dna; genetic engineering; pregnancy; fetus; karyotype; complementary dna; prenatal diagnosis; cytochrome p-450 enzyme system; human; female; priority journal; dna restriction enzymes; support, non-u.s. gov't; support, u.s. gov't, p.h.s.; steroid hydroxylases; congenital adrenal hyperplasia; steroid 21 monooxygenase deficiency; adrenal hyperplasia, congenital; amniotic fluid; steroid 21-hydroxylase; complementary deoxyribonucleic acid; 17-hydroxyprogesterone; hydroxyprogesterones
Journal Title: American Journal of Obstetrics and Gynecology
Volume: 158
Issue: 3 Pt. 1
ISSN: 0002-9378
Publisher: Elsevier Inc.  
Date Published: 1988-03-01
Start Page: 545
End Page: 547
Language: English
DOI: 10.1016/0002-9378(88)90022-1
PUBMED: 2831719
PROVIDER: scopus
DOI/URL:

https://www.scopus.com/inward/record.uri?eid=2-s2.0-0023835946&doi=10.1016%2f0002-9378%2888%2990022-1&partnerID=40&md5=31c96092f9d5fe35531b21a8d4c08767
Notes: Article -- Export Date: 6 August 2020 -- Source: Scopus
Altmetric
What is Altmetric?
Citation Impact
What is Dimensions Citation Badge?
BMJ Impact Analytics
Related MSK Work