Population analysis of the GLB1 gene in South Brazil
Autor(a) principal: | |
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Data de Publicação: | 2011 |
Outros Autores: | , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFRGS |
Texto Completo: | http://hdl.handle.net/10183/30549 |
Resumo: | Infantile GM1 gangliosidosis is caused by the absence or reduction of lysosomal beta-galactosidase activity. Studies conducted in Brazil have indicated that it is one of the most frequent lysosomal storage disorders in the southern part of the country. To assess the incidence of this disorder, 390 blood donors were tested for the presence of two common mutations (1622-1627insG and R59H) in theGLB1 gene. Another group, consisting of 26 GM1 patients, and the blood donors were tested for the presence of two polymorphisms (R521C and S532G), in an attempt to elucidate whether there is a founder effect. The frequencies of the R59H and 1622-1627insG mutations among the GM1 patients studied were 19.2% and 38.5%, respectively. The frequency of polymorphism S532G was 16.7%, whereas R521C was not found in the patients. The overall frequency of either R59H or 1622-1627insG was 57.7% of the disease- causing alleles. This epidemiological study suggested a carrier frequency of 1:58. Seven different haplotypes were found. The 1622-1627insG mutation was not found to be linked to any polymorphism, whereas linkage disequilibrium was found for haplotype 2 (R59H, S532G) (p < 0.001). These data confirm the high incidence of GM1 gangliosidosis and the high frequency of two common mutations in southern Brazil. |
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Baiotto, Cléia RosaniSperb, FernandaMatte, Ursula da SilveiraSilva, Claudia Dornelles daSano, RenataCoelho, Janice CarneiroGiugliani, Roberto2011-08-04T06:01:14Z20111415-4757http://hdl.handle.net/10183/30549000775739Infantile GM1 gangliosidosis is caused by the absence or reduction of lysosomal beta-galactosidase activity. Studies conducted in Brazil have indicated that it is one of the most frequent lysosomal storage disorders in the southern part of the country. To assess the incidence of this disorder, 390 blood donors were tested for the presence of two common mutations (1622-1627insG and R59H) in theGLB1 gene. Another group, consisting of 26 GM1 patients, and the blood donors were tested for the presence of two polymorphisms (R521C and S532G), in an attempt to elucidate whether there is a founder effect. The frequencies of the R59H and 1622-1627insG mutations among the GM1 patients studied were 19.2% and 38.5%, respectively. The frequency of polymorphism S532G was 16.7%, whereas R521C was not found in the patients. The overall frequency of either R59H or 1622-1627insG was 57.7% of the disease- causing alleles. This epidemiological study suggested a carrier frequency of 1:58. Seven different haplotypes were found. The 1622-1627insG mutation was not found to be linked to any polymorphism, whereas linkage disequilibrium was found for haplotype 2 (R59H, S532G) (p < 0.001). These data confirm the high incidence of GM1 gangliosidosis and the high frequency of two common mutations in southern Brazil.application/pdfengGenetics and molecular biology. Ribeirão Preto, SP. Vol. 34, n. 1 (2011), p. 45-48.Gangliosídeosbeta-GalactosidaseDesequilíbrio de ligaçãoGM1 gangliosidosisBeta-galactosidaseGLB1 geneFounder effectLinkage disequilibriumPopulation analysis of the GLB1 gene in South Brazilinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/otherinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSORIGINAL000775739.pdf000775739.pdfTexto completo (inglês)application/pdf62248http://www.lume.ufrgs.br/bitstream/10183/30549/1/000775739.pdf4e20359a7863a5e903c92880308d304cMD51TEXT000775739.pdf.txt000775739.pdf.txtExtracted Texttext/plain19341http://www.lume.ufrgs.br/bitstream/10183/30549/2/000775739.pdf.txta20ddd0c3f2e409478f4e268ed2be0e9MD52THUMBNAIL000775739.pdf.jpg000775739.pdf.jpgGenerated Thumbnailimage/jpeg1873http://www.lume.ufrgs.br/bitstream/10183/30549/3/000775739.pdf.jpga963002ab1b8f9f530bc490f84655d62MD5310183/305492023-11-11 04:24:57.615047oai:www.lume.ufrgs.br:10183/30549Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2023-11-11T06:24:57Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false |
dc.title.pt_BR.fl_str_mv |
Population analysis of the GLB1 gene in South Brazil |
title |
Population analysis of the GLB1 gene in South Brazil |
spellingShingle |
Population analysis of the GLB1 gene in South Brazil Baiotto, Cléia Rosani Gangliosídeos beta-Galactosidase Desequilíbrio de ligação GM1 gangliosidosis Beta-galactosidase GLB1 gene Founder effect Linkage disequilibrium |
title_short |
Population analysis of the GLB1 gene in South Brazil |
title_full |
Population analysis of the GLB1 gene in South Brazil |
title_fullStr |
Population analysis of the GLB1 gene in South Brazil |
title_full_unstemmed |
Population analysis of the GLB1 gene in South Brazil |
title_sort |
Population analysis of the GLB1 gene in South Brazil |
author |
Baiotto, Cléia Rosani |
author_facet |
Baiotto, Cléia Rosani Sperb, Fernanda Matte, Ursula da Silveira Silva, Claudia Dornelles da Sano, Renata Coelho, Janice Carneiro Giugliani, Roberto |
author_role |
author |
author2 |
Sperb, Fernanda Matte, Ursula da Silveira Silva, Claudia Dornelles da Sano, Renata Coelho, Janice Carneiro Giugliani, Roberto |
author2_role |
author author author author author author |
dc.contributor.author.fl_str_mv |
Baiotto, Cléia Rosani Sperb, Fernanda Matte, Ursula da Silveira Silva, Claudia Dornelles da Sano, Renata Coelho, Janice Carneiro Giugliani, Roberto |
dc.subject.por.fl_str_mv |
Gangliosídeos beta-Galactosidase Desequilíbrio de ligação |
topic |
Gangliosídeos beta-Galactosidase Desequilíbrio de ligação GM1 gangliosidosis Beta-galactosidase GLB1 gene Founder effect Linkage disequilibrium |
dc.subject.eng.fl_str_mv |
GM1 gangliosidosis Beta-galactosidase GLB1 gene Founder effect Linkage disequilibrium |
description |
Infantile GM1 gangliosidosis is caused by the absence or reduction of lysosomal beta-galactosidase activity. Studies conducted in Brazil have indicated that it is one of the most frequent lysosomal storage disorders in the southern part of the country. To assess the incidence of this disorder, 390 blood donors were tested for the presence of two common mutations (1622-1627insG and R59H) in theGLB1 gene. Another group, consisting of 26 GM1 patients, and the blood donors were tested for the presence of two polymorphisms (R521C and S532G), in an attempt to elucidate whether there is a founder effect. The frequencies of the R59H and 1622-1627insG mutations among the GM1 patients studied were 19.2% and 38.5%, respectively. The frequency of polymorphism S532G was 16.7%, whereas R521C was not found in the patients. The overall frequency of either R59H or 1622-1627insG was 57.7% of the disease- causing alleles. This epidemiological study suggested a carrier frequency of 1:58. Seven different haplotypes were found. The 1622-1627insG mutation was not found to be linked to any polymorphism, whereas linkage disequilibrium was found for haplotype 2 (R59H, S532G) (p < 0.001). These data confirm the high incidence of GM1 gangliosidosis and the high frequency of two common mutations in southern Brazil. |
publishDate |
2011 |
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2011-08-04T06:01:14Z |
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2011 |
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http://hdl.handle.net/10183/30549 |
dc.language.iso.fl_str_mv |
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language |
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dc.relation.ispartof.pt_BR.fl_str_mv |
Genetics and molecular biology. Ribeirão Preto, SP. Vol. 34, n. 1 (2011), p. 45-48. |
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openAccess |
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