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| Costa,Silvia S.; Fonseca,Angela M. da; Bagnoli,Vicente R.; Vianna-Morgante,Angela M.. |
| The loss-of-function mutation of the FMR1 gene due to expansion of the 5' UTR CGG repeat causes the fragile X syndrome, the most frequent form of inherited mental retardation. On the other hand, the FMR1 premutation, which is transcriptionally active and produces the protein, confers an increased risk for premature ovarian failure (POF) to carrier females. Among 41 unrelated Brazilian women with idiopathic POF, we found three carriers of premutations (CGG expansionse > 59 repeats) and two carriers of high-intermediate alleles (50-55 repeats). Two premutations and two intermediate alleles were detected among the 16 familial POF cases, and one premutated woman, among the 25 sporadic cases. The premutation frequency among the familial cases (12.5%)... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Premature ovarian failure; Menopause; FMR1 premutation; Fragile X syndrome. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000300002 |
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| Christofolini,Denise M.; Lipay,Monica V.N.; Ramos,Marco Antonio P.; Costa,Silvia S.; Bellucco,Fernanda T.S.; Nogueira,Sintia I.; Kulikowski,Leslie D.; Brunoni,Décio; Melaragno,Maria Isabel. |
| Fragile X syndrome is the most frequent cause of inherited mental retardation. The phenotype in this syndrome is quite variable and less conspicuous in younger patients, making clinical diagnosis difficult and thus making molecular diagnosis necessary. The use of clinical checklists in mentally retarded individuals can help selecting patients to be given priority in the molecular investigation for the fragile-X mutation in the FMR1 gene. We evaluated two clinical checklists in a sample of 200 Brazilian male patients with mental retardation. The highest scores in the two checklists concentrated among the 19 males (9.5%) found to carry full mutations. Our results confirm the importance of fragile-X checklists as a clinical tool in the study of mentally... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: FMR1 gene; Fragile X syndrome checklist; Molecular methods; X-linked mental retardation. |
| Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000600002 |
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