Heterogeneity of steroid 21-hydroxylase genes in classical congenital adrenal hyperplasia.
Careful genotyping of three families, each having a member with classical salt-losing steroid 21-hydroxylase deficiency, has allowed identification of carrier haplotypes. Digestion with TaqI or EcoRI and probing with a cDNA probe for the 21-hydroxylase genes (pC21/3c) revealed that all six affected haplotypes are abnormal with at least EcoRI. The data suggest that there is extreme polymorphism of the 21-hydroxylase genes and that dysfunction may result from several different abnormalities.
D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology / Q000235:genetics*; D005260:Female; D005796:Genes; D006239:Haplotypes; D006650:Histocompatibility Testing; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D013255:Steroid 21-Hydroxylase / Q000235:genetics*; D013250:Steroid Hydroxylases / Q000235:genetics*
D013250:Steroid Hydroxylases; D013255:Steroid 21-Hydroxylase