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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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| De Marco,V.; Carvalho,L.R.; Billerbeck,A.E.C.; Mendonça,B.B.. |
| There is a high incidence of pituitary-dependent hyperadrenocorticism (PDH) in Poodle dogs, with family members being affected by the disease, suggesting a genetic involvement. Tpit is an obligate transcription factor for the expression of pro-opiomelanocortingene and for corticotroph terminal differentiation. The aim of the present study was to screen the Tpit gene for germline mutations in Poodles with PDH. Fifty Poodle dogs (33 female, 8.71±2.8 years) with PDH and 50 healthy Poodle dogs (32 females, 9.4241 2.8 years) were studied. Genomic DNA was isolated from peripheral blood, amplified by PCR and submitted to automatic sequence. No mutation in the coding region of Tpit was found, whereas the new single nucleotide polymorphism p.S343G, in heterozygous... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Dog; ACTH-dependent hyperadrenocorticism; Tpit; Mutation. |
| Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0102-09352012000400010 |
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