Congenital Adrenal Hyperplasia
- 18 June 1987
- journal article
- review article
- Published by Massachusetts Medical Society in The New England Journal of Medicine
- Vol. 316 (25), 1580-1586
- https://doi.org/10.1056/nejm198706183162506
Abstract
(Second of Two Parts)Molecular Genetics of 21-Hydroxylase DeficiencyIt 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, . . .Keywords
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