Congenital adrenal hyperplasia (C.A.H.) with 21-hydroxylase deficiency is an autosomal recessive disease. HLA genotyping of parents and children in six families in which more than 1 child had C.A.H. established that the gene responsible for 21-hydroxylase deficiency is closely linked to HLA. One patient had inherited a maternal HLA-A/B recombinant haplotype and studies in this family indicated that the abnormal gene is close to the HLA-B locus. The findings provide a method for identification of C.A.H. carriers and for prenatal diagnosis of affected children.

DOI: 10.1016/S0140-6736(77)90362-2
Version: za2963e q8za9 q8zb7 q8zc5 q8zd5 q8zeb q8zf3 q8zgb