Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/193911
Type: Artigo de periódico
Title: Molecular Analysis Of Cyp21 And C4 Genes In Brazilian Families With The Classical Form Of Steroid 21-hydroxylase Deficiency.
Author: de-Araujo, M
Sanches, M R
Suzuki, L A
Guerra, G
Farah, S B
de-Mello, M P
Abstract: The most common enzymatic defect of steroid synthesis is deficiency of the adrenal steroid 21-hydroxylase. Inhibition of the formation of cortisol results in an increased pituitary release of ACTH which in turn drives the adrenal cortex to overproduce androgens. This hormonal setting affects the development of genetic females by misdirecting the differentiation of external genitalia towards the male type. Since the isolation of the gene encoding 21-hydroxylase enzyme in 1984, gene deletions, large gene conversions, and microconversions have been reported to be responsible for the disease. In this paper, we report a study of this genetic defect in 22 families with one or more affected offspring diagnosed as having the classical form of congenital adrenal hyperplasia. The DNA from 30 patients was analyzed with three restriction enzymes. Hybridization with a 21-hydroxylase cDNA probe and the 5' end of a C4 genomic probe disclosed gene deletion in 7.3% (3/41) of the disease-related chromosomes. The rate of large gene conversion was 17.1% (7/41), and no abnormality in the hybridization pattern was observed in 75.6% (31/41) of the disease alleles. Densitometry of the autoradiographs was used to determine the ratio of the copy-number of the 21-hydroxylase gene (CYP21B) to the copy-number of its pseudogene (CYP21A). Differences in phenotype, the low frequency of gene deletion, and the high frequency of gene conversion compared with other studies in different populations indicated that 21-hydroxylase deficiency in the Brazilian population may involve different molecular mutations.
Subject: Adrenal Hyperplasia, Congenital
Aldosterone
Androgens
Blotting, Southern
Brazil
Child
Child, Preschool
Female
Gene Deletion
Gene Frequency
Humans
Hydrocortisone
Infant
Infant, Newborn
Male
Mutation
Sex Differentiation
Steroid 21-hydroxylase
Citation: Brazilian Journal Of Medical And Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas / Sociedade Brasileira De Biofísica ... [et Al.]. v. 29, n. 1, p. 1-13, 1996-Jan.
Rights: aberto
Identifier DOI: 
Address: http://www.ncbi.nlm.nih.gov/pubmed/8731325
Date Issue: 1996
Appears in Collections:Unicamp - Artigos e Outros Documentos

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