Congenital Adrenal Hyperplasia

P. C. White, M. I. New, B. Dupont

Research output: Contribution to journalReview article

194 Scopus citations

Abstract

(Second of Two Parts) Molecular Genetics of 21-Hydroxylase Deficiency It has been demonstrated that the HLA-linked defect in 21-hydroxylase deficiency involves a structural gene for the corresponding cytochrome P450 (P450c21). A bovine cDNA clone was isolated that encoded part of this enzyme (i.e., “complementary DNA,” corresponding to the messenger RNA for P450c21, linked to sequences that allowed this DNA to replicate autonomously in bacteria).52 DNA samples were extracted from leukocytes obtained from normal persons and from patients with 21-hydroxylase deficiency who carried the characteristic HLA haplotype A3;Bw47:DR7. These samples were analyzed with use of Southern blot hybridization.4,53 For this analysis,…

Original languageEnglish (US)
Pages (from-to)1580-1586
Number of pages7
JournalNew England Journal of Medicine
Volume316
Issue number25
DOIs
StatePublished - Jun 18 1987

ASJC Scopus subject areas

  • Medicine(all)

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