Deletion of the steroid 21-hydroxylase and complement C4 genes in congenital adrenal hyperplasia.
DNA was analysed from 20 patients with congenital adrenal hyperplasia due to cytochrome P-450 steroid 21-hydroxylase deficiency. Using probes recognising sequences in both the 21-hydroxylase gene and the adjacent fourth component of complement (C4), one patient was found to have a homozygous deletion of DNA which encompassed the C4B and 21-hydroxylase B genes. Evidence is presented for this deletion arising by recombination between homologous regions of 21-hydroxylase A and B. Seven patients appeared to be heterozygous for the same deletion, but no detectable alteration in the 21-hydroxylase gene could be demonstrated in others.
D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D003181:Complement C4 / Q000172:deficiency* / Q000235:genetics; D004247:DNA / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D011110:Polymorphism, Genetic; D011995:Recombination, Genetic; D013255:Steroid 21-Hydroxylase / Q000235:genetics; D013250:Steroid Hydroxylases / Q000172:deficiency*
D003181:Complement C4; D004247:DNA; D013250:Steroid Hydroxylases; D013255:Steroid 21-Hydroxylase