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| Bachega,T.A.S.S.; Billerbeck,A.E.C.; Madureira,G.; Marcondes,J.A.M.; Longui,C.A.; Leite,M.V.; Arnhold,I.J.P.; Mendonça,B.B.. |
| We determined the frequency of large rearrangements and point mutations in 130 Brazilian patients with 21-hydroxylase deficiency and correlated genotype with phenotype. The frequency of CYP21 deletions was lower (4.4%) than in most of the previous series described, whereas the frequency of large gene conversions was similar to the frequency reported in the literature (6.6%). The most frequent point mutations were I2 splice (41.8% in salt wasting - SW), I172N (32.6% in simple virilizing - SV) and V281L (40.2% in the late onset form - LO). The frequency of the nine most common point mutations was similar to that reported for other countries. The 93 fully genotyped patients were classified into 3 mutation groups based on the degree of enzymatic activity... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: 21-hydroxylase deficiency; Congenital adrenal hyperplasia; Brazilian patients; CYP21 mutations; Genotype; Phenotype. |
| Ano: 2000 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2000001000011 |
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| Torres,N.; Mello,M.P.; Germano,C.M.R.; Elias,L.L.K.; Moreira,A.C.; Castro,M.. |
| Deficiency of 21-hydroxylase is the most common form of congenital adrenal hyperplasia (CAH-21OH). We determined by allele-specific PCR the frequency of microconversion in the CYP21A2 gene in 50 Brazilian patients with the classical (salt wasting: SW and simple virilizing: SV) forms and nonclassical (NC) form of CAH-21OH and correlated genotype with phenotype. Genotypes were classified into three mutation groups (A, B, and C) based on the amount of enzymatic activity in in vitro studies using adrenal cells. In 94 unrelated alleles, we diagnosed 76% of the affected alleles after screening for 7 microconversions. The most frequent point mutations observed in this series were I172N (19%), V281L (18%), and IVS2,A/C>G,-12 (15%). In the SW form, the most... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: 21-Hydroxylase; Mutation; Microconversion; Genotype; Phenotype; Congenital adrenal hyperplasia. |
| Ano: 2003 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003001000006 |
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