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Haplotype analysis of newly diagnosed Portuguese and Brazilian families with fibrinogen amyloidosis caused by the FGA p.Glu545Val variant
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Orientador(es)
Resumo(s)
Background: Fibrinogen A alpha-chain (AFib) amyloidosis is an autosomal dominant disease with an endemic foci in the district
of Braga, northern Portugal [1]. Among the 16 amyloidogenic mutations identified in the fibrinogen A alpha-chain
gene (FGA) [2,3], the c.1634A > T (p.Glu545Val) mutation
(rs121909612) is the most common and, so far, the only one
identified in Portugal. A first study using three common
polymorphisms showed a single haplotype, associated with
the FGA p.Glu545Val mutation in Irish–American and
Polish–Canadian kindreds [4]. However, the origin of this
amyloidogenic variant in diverse regions and its migration
in the different populations are still unclear. Therefore, we
proceeded to a preliminary study using two FGA haplotype
markers in newly identified Portuguese and Brazilian carriers to investigate the possibility of a common ancestor.
Descrição
Palavras-chave
Amino Acid Substitution Amyloidosis Brazil Female Fibrinogen Humans Male Portugal Family Haplotypes Mutation, Missense Polymorphism, Genetic Doenças Genéticas
Contexto Educativo
Citação
Amyloid . 2019;26(sup1):144-145. doi: 10.1080/13506129.2019.1582500. Epub 2019 Jul 25
Editora
Taylor & Francis