Haplotype analysis of common transthyretin mutations

Maria Rosário Almeida, N. Aoyama-Oishi, Yoshiyuki Sakaki, Gosta Holmgren, Drugge Ulf, Alessandra Ferlini, Fabrizio Salvi, Miguel Munar-Qués, Merrill D. Benson, Martha Skinner, Pedro P. Costa, Maria João Saraiva

Research output: Contribution to journalArticlepeer-review


The most frequent transthyretin (TTR) variant associated with hereditary amyloidosis is TTR Met 30, which has its major focus in Portugal, although it also occurs in many other countries. The distribution of the mutation and its occurrence in a CpG dinucleotide lead us to question the origin of the mutation and the possibility of its having originated in Portugal. In order to investigate these questions, we studied the distribution of haplotypes associated with the Met 30 mutation in families from different European countries. All the analysed Portuguese families presented the same haplotype associated with the Met 30 mutation (haplotype I). The same was found for the Swedish and Spanish families studied. However, a distinct haplotype (haplotype III) was found in three families, one Italian, one English and one Turkish. These results suggest that, although the Portuguese Met 30 carriers might have one founder, the mutation probably recurred in populations in Europe in a similar manner to that reported in Japan. In this study, we have also analysed the haplotypes associated with other TTR variants frequent in the Portuguese population.

Original languageEnglish
Pages (from-to)350-354
Number of pages5
JournalHuman Genetics
Issue number3
Publication statusPublished - Sep 1995

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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