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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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| Diego,Yolanda de; Hmadcha,Abdelkrim; Moron,Francisco; Lucas,Miguel; Carrasco,Mercedes; Pintado,Elizabeth. |
| Fragile X syndrome is the most common inherited form of mental retardation. We investigated the prevalence of the Fragile X syndrome in the population with mental retardation of unknown etiology in Andalusia, South Spain. We analyzed 322 unrelated patients (280 males and 42 females), and found a fragile X syndrome frequency of 6.5%. Among the non-fragile X chromosomes, the 29 CGG repeat was the most common allele. At the linked microsatellite DXS548 locus, we found a new allele which we called "allele 10" (17 CA). Similar to other south European populations, allele 2 (25 CA) at the DXS548 locus and the fragile X allele were in linkage disequilibrium supporting the idea of a common founder chromosome predisposing to the CGG expansion. |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Mental retardation; Fragile X syndrome; CGG repeats; Genetic screening. |
| Ano: 2002 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000100002 |
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