Brasil | Artigo de periódico
dc.creatorPereira, Fernanda dos Santos
dc.creatorJardim, Laura Bannach
dc.creatorNetto, Cristina Brinckmann Oliveira
dc.creatorBurin, Maira Graeff
dc.creatorCecchin, Cláudia Rafaela
dc.creatorGiugliani, Roberto
dc.creatorMatte, Ursula da Silveira
dc.date2010-04-24T04:15:45Z
dc.date2007
dc.identifier0100-879X
dc.identifierhttp://hdl.handle.net/10183/21213
dc.identifier000622867
dc.descriptionFabry 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.
dc.formatapplication/pdf
dc.languageeng
dc.relationBrazilian journal of medical and biological research. Ribeirão Preto, SP. Vol. 40, n. 12 (dez. 2007), p. 1599-1604
dc.rightsOpen Access
dc.subjectDoença de Fabry
dc.subjectGalactosidase A
dc.subjectFabry disease
dc.subjectLysosomal disorders
dc.subjectα-Galactosidase A
dc.subjectGlobotriaosylceramide storage
dc.subjectGLA gene
dc.titleGenomic analysis of Brazilian patients with fabry disease
dc.typeArtigo de periódico
dc.typeNacional


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