Location of the gene for 21-hydroxylase deficiency.
HLA typing of 33 families with one or more children suffering from congenital adrenal hyperplasia confirmed that the gene for 21-hydroxylase deficiency is closely associated with the HLA region. Analysis of two families in which recombination of chromosome 6 had occurred indicated that the gene locus is between the A and D loci of the HLA region. The rare allele Bw47 was observed in 18 parents and was always associated with the carrier state for 21-hydroxylase deficiency.
D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D000328:Adult; D002648:Child; D002874:Chromosome Mapping; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D006801:Humans; D008285:Major Histocompatibility Complex; D008297:Male; D013255:Steroid 21-Hydroxylase / Q000235:genetics*; D013250:Steroid Hydroxylases / Q000235:genetics*
D013250:Steroid Hydroxylases; D013255:Steroid 21-Hydroxylase