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Comparative Study
. 1987 Apr-Jun;14(2-3):89-98.
doi: 10.1111/j.1744-313x.1987.tb00367.x.

Heterogeneity of steroid 21-hydroxylase genes in classical congenital adrenal hyperplasia

R L Dawkins  1 , E Martin, P H Kay, M J Garlepp, A N Wilton, M S Stuckey
Affiliations
Comparative Study

Heterogeneity of steroid 21-hydroxylase genes in classical congenital adrenal hyperplasia

R L Dawkins et al. J Immunogenet. 1987 Apr-Jun.

Abstract

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.

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