Molecular analysis of CYP21 and C4 genes in Brazilian families with the classical form of steroid 21-hydroxylase deficiency

dc.creatordeAraujo, M
dc.creatorSanches, MR
dc.creatorSuzuki, LA
dc.creatorGuerra, G
dc.creatorFarah, SB
dc.creatordeMello, MP
dc.date1996
dc.dateJAN
dc.date2014-07-30T14:03:35Z
dc.date2015-11-26T17:39:53Z
dc.date2014-07-30T14:03:35Z
dc.date2015-11-26T17:39:53Z
dc.date.accessioned2018-03-29T00:21:30Z
dc.date.available2018-03-29T00:21:30Z
dc.identifierBrazilian Journal Of Medical And Biological Research. Assoc Bras Divulg Cientifica, v. 29, n. 1, n. 1, n. 13, 1996.
dc.identifier0100-879X
dc.identifierWOS:A1996TP48300001
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/57714
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/57714
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1286567
dc.descriptionThe 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.
dc.description29
dc.description1
dc.description1
dc.description13
dc.languageen
dc.publisherAssoc Bras Divulg Cientifica
dc.publisherSao Paulo
dc.publisherBrasil
dc.relationBrazilian Journal Of Medical And Biological Research
dc.relationBrazilian J. Med. Biol. Res.
dc.rightsaberto
dc.sourceWeb of Science
dc.subjectcongenital adrenal hyperplasia
dc.subjectgene deletion
dc.subjectsteroid 21-hydroxylase gene
dc.subject21-hydroxylase deficiency
dc.subjectCongenital Adrenal-hyperplasia
dc.subjectMajor-histocompatibility-complex
dc.subjectPoint Mutations
dc.subjectC-4 Genes
dc.subjectDeletions
dc.subjectOrganization
dc.subjectHaplotypes
dc.subjectHla
dc.subjectChromosome
dc.subjectExpression
dc.titleMolecular analysis of CYP21 and C4 genes in Brazilian families with the classical form of steroid 21-hydroxylase deficiency
dc.typeArtículos de revistas


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