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.

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.