Genomic analysis of Brazilian patients with Fabry disease

Pereira, F. S; Jardim, L. B; Netto, C. B; Burin, M. G; Cecchin, C; Giugliani, R; Matte, U. S

Pereira, F. S; Jardim, L. B; Netto, C. B; Burin, M. G; Cecchin, C; Giugliani, R; Matte, U. S.

Afiliación

Pereira, F. S; Universidade Federal do Rio Grande do Sul. Hospital de Clínicas de Porto Alegre. Centro de Terapia Gênica. Porto Alegre. BR
Jardim, L. B; Universidade Federal do Rio Grande do Sul. Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre. BR
Netto, C. B; Universidade Federal do Rio Grande do Sul. Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre. BR
Burin, M. G; Universidade Federal do Rio Grande do Sul. Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre. BR
Cecchin, C; Universidade Federal do Rio Grande do Sul. Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre. BR
Giugliani, R; Universidade Federal do Rio Grande do Sul. Hospital de Clínicas de Porto Alegre. Centro de Terapia Gênica. Porto Alegre. BR
Matte, U. S; Universidade Federal do Rio Grande do Sul. Hospital de Clínicas de Porto Alegre. Centro de Terapia Gênica. Porto Alegre. BR

Rev. bras. pesqui. méd. biol ; Braz. j. med. biol. res;40(12): 1599-1604, Dec. 2007. tab

Article en En | LILACS | ID: lil-466733

Biblioteca responsable: BR1.1

ABSTRACT

ABSTRACT

Fabry disease is an X-linked lysosomal disorder due to a-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 a-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 a-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.

Asunto(s)

Adolescente; Adulto; Femenino; Humanos; Masculino; Persona de Mediana Edad; Enfermedad de Fabry/genética; Mutación/genética; alfa-Galactosidasa/genética; ADN Complementario/genética; Exones/genética; Enfermedad de Fabry/enzimología; Linaje; Reacción en Cadena de la Polimerasa

Palabras clave

Fabry disease; GLA gene; Globotriaosylceramide storage; Lysosomal disorders; a-Galactosidase A

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Texto completo: 1 Colección: 01-internacional Base de datos: LILACS Asunto principal: Enfermedad de Fabry / Alfa-Galactosidasa / Mutación Límite: Adolescent / Adult / Female / Humans / Male País/Región como asunto: America do sul / Brasil Idioma: En Revista: Braz. j. med. biol. res / Rev. bras. pesqui. méd. biol Asunto de la revista: BIOLOGIA / MEDICINA Año: 2007 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Brasil

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