title: [Molecular genetics of 21-hydroxylase deficiency in congenital adrenal hyperplasia].
abstract: 21-hydroxylase gene analysis was performed on the genomic DNA from patients with congenital adrenal hyperplasia (CAH), their siblings, their parents as well as from a healthy individual serving as control. After digestion by the Taq I and Bgl II restriction enzymes, DNA was hybridized with specific nucleotidic probes: pC21a for the 21-hydroxylase genes, pAT-A for the C4 component Complement genes, closely linked to the 21-hydroxylase genes on the 6 chromosome. Likewise the pFB3B probe was used for the B factor gene located 80 kilobases upstream the 21-hydroxylase gene. From this molecular analysis on 11 families, we report here 4 investigations showing the most frequent genetic abnormalities we have encountered: gene deletions, gene conversions and point mutations. These data show that the molecular approach is a powerful tool for studying this endocrine disease at the clinical, genetic and fundamental point of view.
authors.affiliation: Biochimie Endocrinienne du Développement et de la Reproduction, CHRU Lapeyronie et INSERM U58 Montpellier, France.
authors.forename: J M
authors.initials: JM
authors.lastname: Lobaccaro
authors.forename: N
authors.initials: N
authors.lastname: Ghanem
authors.forename: G
authors.initials: G
authors.lastname: Lefranc
authors.forename: C
authors.initials: C
authors.lastname: Sultan
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D000328:Adult; D002648:Child; D003181:Complement C4 / Q000235:genetics; D015342:DNA Probes; D004262:DNA Restriction Enzymes / Q000494:pharmacology; D005260:Female; D006801:Humans; D008297:Male; D015183:Restriction Mapping; D016415:Sequence Alignment; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
chemical_list: D003181:Complement C4; D015342:DNA Probes; D013255:Steroid 21-Hydroxylase; D004262:DNA Restriction Enzymes
vernacular_title: Génétique moléculaire du déficit en 21-hydroxylase dans l'hyperplasie congénitale des surrénales.