Biomaterial Database

[Detection of steroid 21-hydroxylase gene variation among normal Chinese and patients with congenital adrenal hyperplasia]. 1991

X Pan

Genomic DNA from 40 unrelated healthy individuals and 16 families affected with 21-hydroxylase deficiency were digested with restriction enzyme Taq I followed by Southern blot and hybridization using a 21-hydroxylase (21-OH) gene cDNA probe. In healthy individuals the number of copies of 21-OHB gene was constant while that of 21-OHA gene was variable including deletion and duplication. In addition, we found an extra 5.6 kb band in one normal person and in one CAH family. Among the 16 affected families, 19% of 21-OHB gene were deleted. No homologous deletion was found. The frequency of deletion is lower than that reported in the literature. There was variation in the copy-number of 21-OHA gene among patients with CAH, yet no difference was found between the patients and normal persons. The information on prenatal diagnosis of CAH is briefly discussed.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D002872	Chromosome Deletion	Actual loss of portion of a chromosome.	Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D002896	Chromosomes, Human, Pair 6	A specific pair GROUP C CHROMSOMES of the human chromosome classification.	Chromosome 6
D005260	Female		Females
D005810	Multigene Family	A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)	Gene Clusters,Genes, Reiterated,Cluster, Gene,Clusters, Gene,Families, Multigene,Family, Multigene,Gene Cluster,Gene, Reiterated,Multigene Families,Reiterated Gene,Reiterated Genes
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000312	Adrenal Hyperplasia, Congenital	A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. Defects in STEROID 21-HYDROXYLASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES); TESTOSTERONE 5-ALPHA-REDUCTASE; or steroidogenic acute regulatory protein; among others, underlie these disorders.	Congenital Adrenal Hyperplasia,Hyperplasia, Congenital Adrenal,Adrenal Hyperplasias, Congenital,Congenital Adrenal Hyperplasias,Hyperplasias, Congenital Adrenal
D013255	Steroid 21-Hydroxylase	An adrenal microsomal cytochrome P450 enzyme that catalyzes the 21-hydroxylation of steroids in the presence of molecular oxygen and NADPH-FERRIHEMOPROTEIN REDUCTASE. This enzyme, encoded by CYP21 gene, converts progesterones to precursors of adrenal steroid hormones (CORTICOSTERONE; HYDROCORTISONE). Defects in CYP21 cause congenital adrenal hyperplasia (ADRENAL HYPERPLASIA, CONGENITAL).	Cytochrome P-450 CYP21,Steroid 21-Monooxygenase,21-Hydroxylase,Cytochrome P-450 21-Hydroxylase,Cytochrome P-450 c21,Cytochrome P-450(c-21),Cytochrome P450c21,Progesterone 21-Hydroxylase,Steroid-21-Hydroxylase,21 Hydroxylase,Cytochrome P 450 21 Hydroxylase,Cytochrome P 450 CYP21,Cytochrome P 450 c21,P-450 c21, Cytochrome,Progesterone 21 Hydroxylase,Steroid 21 Hydroxylase,Steroid 21 Monooxygenase

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