title: Fabry disease: Evidence for a regional founder effect of theGLAgene mutation 30delG in Brazilian patients.
abstract: The Fabry disease is caused by mutations in the gene (GLA) that encodes the enzyme α-galactosidase A (α-Gal A). More than 500 pathologic variants ofGLAhave already been described, most of them are family-specific. In southern Brazil, a frequent single-base deletion (GLA30delG) was identified among four families that do not recognize any common ancestral. In order to investigate the history of this mutation (investigate the founder effect, estimate the mutation age and the most likely source), six gene-flanking microsatellite markers of the X chromosome on the mutation carriers and their parents, 150 individuals from the same population and 300 individuals that compose the Brazilian parental populations (Europeans, Africans and Native Americans) were genotyped. A common haplotype to the four families was identified and characterized as founder. The age was estimated with two statistics software (DMLE 2.2 and ESTIAGE) that agreed with 11 to 12 generations old. This result indicates that the mutationGLA30delG was originated from a single event on the X chromosome of a European immigrant, during the southern Brazil colonization between 1710 and 1740.
authors.affiliation: Laboratório de Genética Humana e Médica, Instituto de Ciências Biológicas, Universidade Federal do Pará, Belém, PA, Brazil.
authors.forename: Dayse Oliveira
authors.initials: DO
authors.lastname: de Alencar
authors.affiliation: Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, RS, Brazil.
authors.forename: Cristina
authors.initials: C
authors.lastname: Netto
authors.affiliation: Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, RS, Brazil; Programa de Pós-Graduação em Genética e Biologia Molecular, Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
authors.forename: Patricia
authors.initials: P
authors.lastname: Ashton-Prolla
authors.affiliation: Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, RS, Brazil; Programa de Pós-Graduação em Genética e Biologia Molecular, Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
authors.forename: Roberto
authors.initials: R
authors.lastname: Giugliani
authors.affiliation: Laboratório de Genética Humana e Médica, Instituto de Ciências Biológicas, Universidade Federal do Pará, Belém, PA, Brazil; Núcleo de Pesquisas em Oncologia, Universidade Federal do Pará, Belém, PA, Brazil.
authors.forename: Ândrea
authors.initials: Â
authors.lastname: Ribeiro-Dos-Santos
authors.affiliation: Centro de Terapia Gênica, UAMP, CPE, Hospital de Clínicas de Porto Alegre, RS, Brazil.
authors.forename: Fernanda
authors.initials: F
authors.lastname: Pereira
authors.affiliation: Programa de Pós-Graduação em Genética e Biologia Molecular, Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil; Centro de Terapia Gênica, UAMP, CPE, Hospital de Clínicas de Porto Alegre, RS, Brazil.
authors.forename: Ursula
authors.initials: U
authors.lastname: Matte
authors.affiliation: Laboratório de Genética Humana e Médica, Instituto de Ciências Biológicas, Universidade Federal do Pará, Belém, PA, Brazil; Núcleo de Pesquisas em Oncologia, Universidade Federal do Pará, Belém, PA, Brazil.
authors.forename: Ney
authors.initials: N
authors.lastname: Santos
authors.affiliation: Laboratório de Genética Humana e Médica, Instituto de Ciências Biológicas, Universidade Federal do Pará, Belém, PA, Brazil; Núcleo de Pesquisas em Oncologia, Universidade Federal do Pará, Belém, PA, Brazil.
authors.forename: Sidney
authors.initials: S
authors.lastname: Santos
keywords: 30delG mutation; Brazil; Fabry disease; Founder effect; GLA gene