Comparative Study
doi: 10.1111/j.1744-313x.1987.tb00367.x.
Heterogeneity of steroid 21-hydroxylase genes in classical congenital adrenal hyperplasia
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- PMID: 2891769
- DOI: 10.1111/j.1744-313x.1987.tb00367.x
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Comparative Study
Heterogeneity of steroid 21-hydroxylase genes in classical congenital adrenal hyperplasia
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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