Linkage and association between HLA and 21-hydroxylase deficiency.
Congenital adrenal hyperplasia because of 21-hydroxylase deficiency is closely linked to the HLA system. The lod scores in 14 informative families are presented. Apart from linkage, the 21-hydroxylase deficiency is associated with an increase of BW47 antigen and lack of B8 antigen in patients. A family with a possible recombination between the 21-hydroxylase deficiency and the HLA complex was found, thus indicating that the 21-hydroxylase gene lies outside the HLA system and is closely linked to the HLA-DR locus.
D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005796:Genes; D005808:Genes, Recessive; D008040:Genetic Linkage; D005838:Genotype; D006680:HLA Antigens / Q000235:genetics*; D006650:Histocompatibility Testing; D006801:Humans; D008297:Male
D006680:HLA Antigens