Abstract
We studied the segregation of the genes for 3β-hydroxy-C19/21-steroid dehydrogenase types I and II (3β-HSD I and II) in a consanguineous family affected with 3β-hydroxy-Δ5-C27steroid dehydrogenase (3β-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 3β-OH-C27-SD to other members of the 3β-hydroxysteroid dehydrogenase gene family.
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Russell, A., Nazer, H., Shams, A. et al. No linkage to the 3β-HSD gene cluster in a kindred affected with 3β-hydroxy-Δ5-C27steroid dehydrogenase deficiency and early onset hepatic failure. Hum Genet 95, 586–588 (1995). https://doi.org/10.1007/BF00223876
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DOI: https://doi.org/10.1007/BF00223876