caa a22 4500 467986657 CHVBK 20180323112534.0 cr unu---uuuuu 170328e19901201xx s 000 0 eng 10.1007/BF00197691 doi (NATIONALLICENCE)springer-10.1007/BF00197691 Defective, deleted or converted CYP21B gene and negative association with a rare restriction fragment length polymorphism allele of the factor B gene in congenital adrenal hyperplasia [Elektronische Daten] [N. Ghanem, J. Lobaccaro, C. Buresi, M. Abbal, G. Halaby, C. Sultan, G. Lefranc] Summary: Defects in the enzyme, steroid 21-hydroxylase, result in congenital adrenal hyperplasia (CAH), a common autosomal recessive disorder of cortisol biosynthesis. The gene encoding this protein (CYP21B) and a closely linked pseudogene (CYP21A) have been mapped in the HLA complex on chromosome 6p, adjacent to the complement genes C4B and C4A, about 80 kb from the factor B gene. Molecular analyses of patients with CAH have shown that the cause of the defect may be either a deletion, a point mutation or a conversion of the active gene. Linkage of the disease to HLA has previously been studied by several groups. We have analyzed DNAs from patients with classical and non-classical CAH and from their family members, by probing with CYP21, C4 and BF cDNAs. In 70% of the CAH haplotypes studied, the defective CYP21B gene was indistinguishable from its structurally intact corresponding gene in Southern blot analysis, and presumably bore point mutations. In the remaining chromosomes, evidence for gene conversions, deletions and various deleterious mutations of the CYP21B gene is given. Moreover, our linkage studies show that a polymorphic TaqI cleavage site in the factor B gene, recently described by us, may be a new and useful genetic marker, because we found this TaqI restriction site only in unaffected haplotypes carrying functional CYP21B genes and, therefore, in negative association with the defective CYP21B gene. Springer-Verlag, 1990 Ghanem N. Laboratoire d'Immunogénétique Moléculaire, URA CNRS 1191, Université Montpellier II — Sciences et Techniques du Languedoc, Place E. Bataillon, F-34095, Montpellier Cedex 5, France aut Lobaccaro J. Laboratoire de Biochimie Endocrinienne du Développement et de la Reproduction, Hôpital Lapeyronie, and INSERM U 58, 60, cxRue de Navacelles, F-34090, Montpellier, France aut Buresi C. Département de Génétique, Faculté de Médecine de Tunis, Tunis, Tunisia aut Abbal M. INSERM U 100, Immunologie et Immunogénétique Humaine, CHU Purpan, F-31052, Toulouse Cedex, France aut Halaby G. Faculté Française de Médecine et de Pharmacie, Université Saint Joseph, and Hôtel-Dieu de France, Beyrouth, Lebanon aut Sultan C. Laboratoire de Biochimie Endocrinienne du Développement et de la Reproduction, Hôpital Lapeyronie, and INSERM U 58, 60, cxRue de Navacelles, F-34090, Montpellier, France aut Lefranc G. Laboratoire d'Immunogénétique Moléculaire, URA CNRS 1191, Université Montpellier II — Sciences et Techniques du Languedoc, Place E. Bataillon, F-34095, Montpellier Cedex 5, France aut Human Genetics Springer-Verlag 86/2(1990-12-01), 117-125 0340-6717 86:2<117 1990 86 439 https://doi.org/10.1007/BF00197691 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00197691 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Ghanem N. Laboratoire d'Immunogénétique Moléculaire, URA CNRS 1191, Université Montpellier II — Sciences et Techniques du Languedoc, Place E. Bataillon, F-34095, Montpellier Cedex 5, France aut NATIONALLICENCE 700 1- Lobaccaro J. Laboratoire de Biochimie Endocrinienne du Développement et de la Reproduction, Hôpital Lapeyronie, and INSERM U 58, 60, cxRue de Navacelles, F-34090, Montpellier, France aut NATIONALLICENCE 700 1- Buresi C. Département de Génétique, Faculté de Médecine de Tunis, Tunis, Tunisia aut NATIONALLICENCE 700 1- Abbal M. INSERM U 100, Immunologie et Immunogénétique Humaine, CHU Purpan, F-31052, Toulouse Cedex, France aut NATIONALLICENCE 700 1- Halaby G. Faculté Française de Médecine et de Pharmacie, Université Saint Joseph, and Hôtel-Dieu de France, Beyrouth, Lebanon aut NATIONALLICENCE 700 1- Sultan C. Laboratoire de Biochimie Endocrinienne du Développement et de la Reproduction, Hôpital Lapeyronie, and INSERM U 58, 60, cxRue de Navacelles, F-34090, Montpellier, France aut NATIONALLICENCE 700 1- Lefranc G. Laboratoire d'Immunogénétique Moléculaire, URA CNRS 1191, Université Montpellier II — Sciences et Techniques du Languedoc, Place E. Bataillon, F-34095, Montpellier Cedex 5, France aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 86/2(1990-12-01), 117-125 0340-6717 86:2<117 1990 86 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer