title: No linkage to the 3 beta-HSD gene cluster in a kindred affected with 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency and early onset hepatic failure.
abstract: We studied the segregation of the genes for 3 beta-hydroxy-C19/21-steroid dehydrogenase types I and II (3 beta-HSD I and II) in a consanguineous family affected with 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase (3 beta-OH-C27-SD) deficiency. The results show that the C27 and C19/21 steroid dehydrogenase activities are encoded by distinct genes that are not in genetic linkage. Further kindreds would assist in screening for linkage of 3 beta-OH-C27-SD to other members of the 3 beta-hydroxysteroid dehydrogenase gene family.
authors.affiliation: Institute of Genetics, University of Glasgow, UK.
authors.forename: A
authors.initials: A
authors.lastname: Russell
authors.forename: H
authors.initials: H
authors.lastname: Nazer
authors.forename: A
authors.initials: A
authors.lastname: Shams
authors.forename: J
authors.initials: J
authors.lastname: Sjövall
authors.forename: R
authors.initials: R
authors.lastname: Sutcliffe
mesh_terms: D015096:3-Hydroxysteroid Dehydrogenases / Q000172:deficiency* / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D017093:Liver Failure / Q000201:enzymology / Q000235:genetics*; D008297:Male; D005810:Multigene Family; D010375:Pedigree; D011110:Polymorphism, Genetic
chemical_list: D015096:3-Hydroxysteroid Dehydrogenases