Genetics of steroid 21-hydroxylase deficiency.
作者： PERRIN C. WHITE
DOI: 10.1016/B978-0-12-571143-2.50014-9
关键词: C4A 、 Genetics 、 Steroid 21-Hydroxylase 、 Structural gene 、 Locus (genetics) 、 Molecular biology 、 Pseudogene 、 Congenital adrenal hyperplasia 、 Gene 、 Biology 、 Human leukocyte antigen
摘要: Publisher Summary Congenital adrenal hyperplasia because of steroid 21-hydroxylase (21-OHase) deficiency is one the most common inborn errors metabolism. The 21-OHase locus closely linked to HLA major histocompatibility complex, and alleles show characteristic associations with particular antigens HLA-linked serum complement components. Bovine human cDNA clones have been isolated that encode a cytochrome P-450 enzyme specific for 21-hydroxylation (P-450c2i) in cortex; these used demonstrate structural gene P-450c2i deleted certain cases deficiency. There are two genes man, each adjacent fourth component (C4A C4B). Studies individuals homozygous deletions shown B active; however, A not; DNA sequence analysis has demonstrated pseudogene. Hybridization additional patients suggests several different mutations associated
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