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Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients

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 of GLA have already been described, most of them are family-specific. In southern Brazil, a frequent single-base deletion (GLA 30delG) was identified amon...

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Autores principales: de Alencar, Dayse Oliveira, Netto, Cristina, Ashton-Prolla, Patricia, Giugliani, Roberto, Ribeiro-dos-Santos, Ândrea, Pereira, Fernanda, Matte, Ursula, Santos, Ney, Santos, Sidney
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121364/
https://www.ncbi.nlm.nih.gov/pubmed/27896116
http://dx.doi.org/10.1016/j.ymgmr.2014.09.002
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author de Alencar, Dayse Oliveira
Netto, Cristina
Ashton-Prolla, Patricia
Giugliani, Roberto
Ribeiro-dos-Santos, Ândrea
Pereira, Fernanda
Matte, Ursula
Santos, Ney
Santos, Sidney
author_facet de Alencar, Dayse Oliveira
Netto, Cristina
Ashton-Prolla, Patricia
Giugliani, Roberto
Ribeiro-dos-Santos, Ândrea
Pereira, Fernanda
Matte, Ursula
Santos, Ney
Santos, Sidney
author_sort de Alencar, Dayse Oliveira
collection PubMed
description 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 of GLA have already been described, most of them are family-specific. In southern Brazil, a frequent single-base deletion (GLA 30delG) 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 mutation GLA 30delG was originated from a single event on the X chromosome of a European immigrant, during the southern Brazil colonization between 1710 and 1740.
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spelling pubmed-51213642016-11-28 Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients de Alencar, Dayse Oliveira Netto, Cristina Ashton-Prolla, Patricia Giugliani, Roberto Ribeiro-dos-Santos, Ândrea Pereira, Fernanda Matte, Ursula Santos, Ney Santos, Sidney Mol Genet Metab Rep The Lysosome 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 of GLA have already been described, most of them are family-specific. In southern Brazil, a frequent single-base deletion (GLA 30delG) 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 mutation GLA 30delG was originated from a single event on the X chromosome of a European immigrant, during the southern Brazil colonization between 1710 and 1740. Elsevier 2014-09-26 /pmc/articles/PMC5121364/ /pubmed/27896116 http://dx.doi.org/10.1016/j.ymgmr.2014.09.002 Text en © 2014 The Authors http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/3.0/).
spellingShingle The Lysosome
de Alencar, Dayse Oliveira
Netto, Cristina
Ashton-Prolla, Patricia
Giugliani, Roberto
Ribeiro-dos-Santos, Ândrea
Pereira, Fernanda
Matte, Ursula
Santos, Ney
Santos, Sidney
Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients
title Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients
title_full Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients
title_fullStr Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients
title_full_unstemmed Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients
title_short Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients
title_sort fabry disease: evidence for a regional founder effect of the gla gene mutation 30delg in brazilian patients
topic The Lysosome
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121364/
https://www.ncbi.nlm.nih.gov/pubmed/27896116
http://dx.doi.org/10.1016/j.ymgmr.2014.09.002
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