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metadata.dc.type: | Artigo de Periódico |
Título : | Genetic studies in a cluster of Mucopolysaccharidosis Type VI patients in Northeast Brazil |
Otros títulos : | Molecular Genetics and Metabolism |
Autor : | Motta, Fabiana Moura Costa Acosta, Angelina Xavier Abe Sandes, Kiyoko Bender, Fernanda Schwartz, Ida Vanessa Doederlein Giugliani, Roberto Segal, Sandra Leistner |
metadata.dc.creator: | Motta, Fabiana Moura Costa Acosta, Angelina Xavier Abe Sandes, Kiyoko Bender, Fernanda Schwartz, Ida Vanessa Doederlein Giugliani, Roberto Segal, Sandra Leistner |
Resumen : | Mucopolysaccharidosis type VI (MPS VI, Maroteaux–Lamy syndrome) is a lysosomal storage disease caused by deficiency of arylsulphatase B. The incidence of MPS VI is very low, usually less than 1 case for every 1,000,000 newborns. In Northeast Brazil we identified in the county of Monte Santo (52,360 inhabitants) thirteen patients with MPS VI. The aim of this work was to identify the mutation(s) present in these patients and analyze intragenic SNPs to define possible haplotypes. The 13 MPS VI patients were found to be homozygous for the p.H178L mutation. All patients have the same haplotype for the intragenic SNPs. Based on current data, the prevalence of MPS VI in this region is estimated as 1:5,000 newborns. These results, together with pedigree analysis, strongly suggest a founder effect accounting for the high frequency of p.H178L mutation in this area. This reinforces the need of a comprehensive community genetics program for this area. |
Palabras clave : | Mucopolysaccharidosis VI Maroteaux–Lamy syndrome Arylsulfatase B Founder effect Population Medical Genetics |
metadata.dc.rights: | Acesso Aberto |
URI : | http://repositorio.ufba.br/ri/handle/ri/16676 |
Fecha de publicación : | 2011 |
Aparece en las colecciones: | Artigo Publicado em Periódico (Faculdade de Medicina) |
Ficheros en este ítem:
Fichero | Descripción | Tamaño | Formato | |
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Angelina Xavier Acosta.pdf_9 | 560,03 kB | Adobe PDF | Visualizar/Abrir |
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