Congenital adrenal hyperplasia due to 21-hydroxylase
deficiency shows both linkage and association with
histocompatibility antigens. The 21-hydroxylase gene lies within
the HLA gene cluster and is therefore linked to the HLA
haplotype. In addition, the salt-losing form of 21-hydroxylase
deficiency is associated with HLA-Bw47 antigen. This
combination of linkage and association is known as linkage
disequilibrium and results in certain alleles at neighbouring
loci occurring together more often than would be expected by
chance.
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