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Genomic analysis of Brazilian patients with fabry disease

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Genomic analysis of Brazilian patients with fabry disease

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Título Genomic analysis of Brazilian patients with fabry disease
Autor Pereira, Fernanda dos Santos
Jardim, Laura Bannach
Netto, Cristina Brinckmann Oliveira
Burin, Maira Graeff
Cecchin, Cláudia Rafaela
Giugliani, Roberto
Matte, Ursula da Silveira
Abstract Fabry disease is an X-linked lysosomal disorder due to α-galactosidase A deficiency that causes storage of globotriaosylceramide. The gene coding for this lysosomal enzyme is located on the long arm of the X chromosome, in region Xq21.33-Xq22. Disease progression leads to vascular disease secondary to involvement of kidney, heart and the central nervous system. Detection of female carriers based solely on enzyme assays is often inconclusive. Therefore, mutation analysis is a valuable tool for diagnosis and genetic counseling. Many mutations of the α-galactosidase A gene have been reported with high genetic heterogeneity, being most mutations private found in only one family. The disease is panethnic, and estimates of incidence range from about 1 in 40,000 to 60,000 males. Our objective was to describe the analysis of 6 male and 7 female individuals belonging to 4 different Fabry disease families by automated sequencing of the seven exons of the α-galactosidase gene. Sequencing was performed using PCR fragments for each exon amplified from DNA extracted from peripheral blood. Three known mutations and one previously described in another Brazilian family were detected. Of 7 female relatives studied, 4 were carriers. Although the present study confirms the heterogeneity of mutations in Fabry disease, the finding of the same mutation previously detected in another Fabry family from our region raises the possibility of some founder effect, or genetic drift. Finally, the present study highlights the importance of molecular analysis for carrier detection and genetic counseling.
Contido em Brazilian journal of medical and biological research. Ribeirão Preto, SP. Vol. 40, n. 12 (dez. 2007), p. 1599-1604
Assunto Doença de Fabry
Galactosidase A
[en] Fabry disease
[en] GLA gene
[en] Globotriaosylceramide storage
[en] Lysosomal disorders
[en] α-Galactosidase A
Origem Nacional
Tipo Artigo de periódico
URI http://hdl.handle.net/10183/21213
Arquivos Descrição Formato
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