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| Teixeira,L.V.S.; Mandelbaum,K.L.; Pereira,L.V.; Perez,A.B.A.. |
| Marfan syndrome (MFS) is an autosomal dominant disease of the connective tissue that affects the ocular, skeletal and cardiovascular systems, with a wide clinical variability. Although mutations in the FBN1 gene have been recognized as the cause of the disease, more recently other loci have been associated with MFS, indicating the genetic heterogeneity of this disease. We addressed the issue of genetic heterogeneity in MFS by performing linkage analysis of the FBN1 and TGFBR2 genes in 34 families (345 subjects) who met the clinical diagnostic criteria for the disease according to Ghent. Using a total of six microsatellite markers, we found that linkage with the FBN1 gene was observed or not excluded in 70.6% (24/34) of the families, and in 1 family the MFS... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Marfan syndrome Fibrillin-1; TGF-β Genetic heterogeneity. |
| Ano: 2011 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2011000800009 |
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| Rozenberg,R.; Araújo,F.T.; Fox,D.C.; Aranda,P.; Nonino,A.; Micheletti,C.; Martins,A.M.; Cravo,R.; Sobreira,E.; Pereira,L.V.. |
| Gaucher disease (GD), the most prevalent lysosome storage disorder, presents an autosomal recessive mode of inheritance. It is a paradigm for therapeutic intervention in medical genetics due to the existence of effective enzyme replacement therapy. We report here the analysis of GD in 262 unrelated Brazilian patients, carried out in order to establish the frequency of the most common mutations and to provide prognostic information based on genotype-phenotype correlations. Among 247 type 1 GD patients, mutation N370S was detected in 47% of all the alleles, but N370S/N370S homozygosity was found in only 10% of the patients, a much lower frequency than expected, suggesting that most individuals presenting this genotype may not receive medical attention.... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Gaucher disease; GBA gene; Allele dose-effect. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000900004 |
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