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Please use this identifier to cite or link to this item: http://repositorio.ufba.br/ri/handle/ri/16676

Title: Genetic studies in a cluster of Mucopolysaccharidosis Type VI patients in Northeast Brazil
Other Titles: Molecular Genetics and Metabolism
Authors: Motta, Fabiana Moura Costa
Acosta, Angelina Xavier
Abe Sandes, Kiyoko
Bender, Fernanda
Schwartz, Ida Vanessa Doederlein
Giugliani, Roberto
Segal, Sandra Leistner
Keywords: Mucopolysaccharidosis VI;Maroteaux–Lamy syndrome;Arylsulfatase B;Founder effect;Population Medical Genetics
Issue Date: 2011
Abstract: 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.
Description: Texto completo: acesso restrito. p. 603–607
URI: http://repositorio.ufba.br/ri/handle/ri/16676
ISSN: 1096-7192
Appears in Collections:Artigos Publicados em Periódicos (Medicina)

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