HETEROGENEITY OF STEROID 21‐HYDROXYLASE GENES IN CLASSICAL CONGENITAL ADRENAL HYPERPLASIA
- 2 April 1987
- journal article
- research article
- Published by Wiley in International Journal of Immunogenetics
- Vol. 14 (2-3) , 89-98
- https://doi.org/10.1111/j.1744-313x.1987.tb00367.x
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.This publication has 21 references indexed in Scilit:
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