Document Detail

Prenatal diagnosis of 21-hydroxylase deficiency by the complementary deoxyribonucleic acid probe for cytochrome P-450C-21OH.
MedLine Citation:
PMID:  2831719     Owner:  NLM     Status:  MEDLINE    
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 Tag1 [corrected] or EcoRI and hybridized to the cytochrome P-450C-21OH complementary deoxyribonucleic acid probe. The previously affected son and the fetus both lacked the Tag1 [corrected] 3.7 kb band. At the time of delivery, the second child had a cord blood 17 alpha-hydroxyprogesterone level of 8000 ng/dl. The absence of the 3.7 kb Tag1 [corrected] fragment in affected members of this family made possible the use of deoxyribonucleic acid analysis for prenatal diagnosis.
R H Reindollar; J B Lewis; P C White; P M Fernhoff; P G McDonough; J B Whitney
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of obstetrics and gynecology     Volume:  158     ISSN:  0002-9378     ISO Abbreviation:  Am. J. Obstet. Gynecol.     Publication Date:  1988 Mar 
Date Detail:
Created Date:  1988-04-20     Completed Date:  1988-04-20     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0370476     Medline TA:  Am J Obstet Gynecol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  545-7     Citation Subset:  AIM; IM    
Department of Obstetrics and Gynecology, Medical College of Georgia, Augusta.
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MeSH Terms
Adrenal Hyperplasia, Congenital* / diagnosis*,  genetics
Amniotic Fluid / analysis,  cytology
Cytochrome P-450 Enzyme System / genetics*
DNA Restriction Enzymes
Hydroxyprogesterones / analysis
Prenatal Diagnosis*
Steroid 21-Hydroxylase / genetics
Steroid Hydroxylases / deficiency*
Reg. No./Substance:
0/Hydroxyprogesterones; 68-96-2/17-alpha-Hydroxyprogesterone; 9007-49-2/DNA; 9035-51-2/Cytochrome P-450 Enzyme System; EC 1.14.-/Steroid Hydroxylases; EC 21-Hydroxylase; EC 3.1.21.-/DNA Restriction Enzymes
Erratum In:
Am J Obstet Gynecol 1988 Jun;158(6 Pt 1):1445

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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