PT - JOURNAL ARTICLE AU - Rumsby, G AU - Carroll, M C AU - Porter, R R AU - Grant, D B AU - Hjelm, M TI - Deletion of the steroid 21-hydroxylase and complement C4 genes in congenital adrenal hyperplasia. AID - 10.1136/jmg.23.3.204 DP - 1986 Jun 01 TA - Journal of Medical Genetics PG - 204--209 VI - 23 IP - 3 4099 - http://jmg.bmj.com/content/23/3/204.short 4100 - http://jmg.bmj.com/content/23/3/204.full SO - J Med Genet1986 Jun 01; 23 AB - 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.