Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency).
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.
D000312:Adrenal Hyperplasia, Congenital; D000308:Adrenocortical Hyperfunction / Q000235:genetics; D000328:Adult; D002648:Child; D000939:Epitopes; D005260:Female; D005838:Genotype; D006680:HLA Antigens / Q000032:analysis; D006238:Haploidy; D006801:Humans; D008297:Male; D006899:Mixed Function Oxygenases / Q000172:deficiency*; D011995:Recombination, Genetic
D000939:Epitopes; D006680:HLA Antigens; D006899:Mixed Function Oxygenases