| Prenatal diagnosis of 21-hydroxylase deficiency by the complementary deoxyribonucleic acid probe for cytochrome P-450C-21OH. | |
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MedLine Citation:
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PMID: 2831719 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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R H Reindollar; J B Lewis; P C White; P M Fernhoff; P G McDonough; J B Whitney |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: American journal of obstetrics and gynecology Volume: 158 ISSN: 0002-9378 ISO Abbreviation: Am. J. Obstet. Gynecol. Publication Date: 1988 Mar |
Date Detail:
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Created Date: 1988-04-20 Completed Date: 1988-04-20 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0370476 Medline TA: Am J Obstet Gynecol Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 545-7 Citation Subset: AIM; IM |
Affiliation:
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Department of Obstetrics and Gynecology, Medical College of Georgia, Augusta. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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17-alpha-Hydroxyprogesterone Adrenal Hyperplasia, Congenital* / diagnosis*, genetics Amniotic Fluid / analysis, cytology Cytochrome P-450 Enzyme System / genetics* DNA* DNA Restriction Enzymes Humans Hydroxyprogesterones / analysis Pedigree Prenatal Diagnosis* Steroid 21-Hydroxylase / genetics Steroid Hydroxylases / deficiency* |
| Chemical | |
Reg. No./Substance:
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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 1.14.99.10/Steroid 21-Hydroxylase; EC 3.1.21.-/DNA Restriction Enzymes |
| Comments/Corrections | |
Erratum In:
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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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