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 Benson, Martha Skinner, Pedro P. Costa, Maria João Saraiva

Research output: Contribution to journalArticle

20 Citations (Scopus)

Abstract

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
Volume96
Issue number3
DOIs
StatePublished - Sep 1995

Fingerprint

Prealbumin
Haplotypes
Mutation
Portugal
Familial Amyloidosis
Population
Japan

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Almeida, M. R., Aoyama-Oishi, N., Sakaki, Y., Holmgren, G., Ulf, D., Ferlini, A., ... Saraiva, M. J. (1995). Haplotype analysis of common transthyretin mutations. Human Genetics, 96(3), 350-354. https://doi.org/10.1007/BF00210422

Haplotype analysis of common transthyretin mutations. / Almeida, Maria Rosário; Aoyama-Oishi, N.; Sakaki, Yoshiyuki; Holmgren, Gosta; Ulf, Drugge; Ferlini, Alessandra; Salvi, Fabrizio; Munar-Qués, Miguel; Benson, Merrill; Skinner, Martha; Costa, Pedro P.; Saraiva, Maria João.

In: Human Genetics, Vol. 96, No. 3, 09.1995, p. 350-354.

Research output: Contribution to journalArticle

Almeida, MR, Aoyama-Oishi, N, Sakaki, Y, Holmgren, G, Ulf, D, Ferlini, A, Salvi, F, Munar-Qués, M, Benson, M, Skinner, M, Costa, PP & Saraiva, MJ 1995, 'Haplotype analysis of common transthyretin mutations', Human Genetics, vol. 96, no. 3, pp. 350-354. https://doi.org/10.1007/BF00210422
Almeida MR, Aoyama-Oishi N, Sakaki Y, Holmgren G, Ulf D, Ferlini A et al. Haplotype analysis of common transthyretin mutations. Human Genetics. 1995 Sep;96(3):350-354. https://doi.org/10.1007/BF00210422
Almeida, Maria Rosário ; Aoyama-Oishi, N. ; Sakaki, Yoshiyuki ; Holmgren, Gosta ; Ulf, Drugge ; Ferlini, Alessandra ; Salvi, Fabrizio ; Munar-Qués, Miguel ; Benson, Merrill ; Skinner, Martha ; Costa, Pedro P. ; Saraiva, Maria João. / Haplotype analysis of common transthyretin mutations. In: Human Genetics. 1995 ; Vol. 96, No. 3. pp. 350-354.
@article{b33bf751888a4d3ebe4a8aa1b7102dcd,
title = "Haplotype analysis of common transthyretin mutations",
abstract = "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.",
author = "Almeida, {Maria Ros{\'a}rio} and N. Aoyama-Oishi and Yoshiyuki Sakaki and Gosta Holmgren and Drugge Ulf and Alessandra Ferlini and Fabrizio Salvi and Miguel Munar-Qu{\'e}s and Merrill Benson and Martha Skinner and Costa, {Pedro P.} and Saraiva, {Maria Jo{\~a}o}",
year = "1995",
month = "9",
doi = "10.1007/BF00210422",
language = "English",
volume = "96",
pages = "350--354",
journal = "Human Genetics",
issn = "0340-6717",
publisher = "Springer Verlag",
number = "3",

}

TY - JOUR

T1 - Haplotype analysis of common transthyretin mutations

AU - Almeida, Maria Rosário

AU - Aoyama-Oishi, N.

AU - Sakaki, Yoshiyuki

AU - Holmgren, Gosta

AU - Ulf, Drugge

AU - Ferlini, Alessandra

AU - Salvi, Fabrizio

AU - Munar-Qués, Miguel

AU - Benson, Merrill

AU - Skinner, Martha

AU - Costa, Pedro P.

AU - Saraiva, Maria João

PY - 1995/9

Y1 - 1995/9

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0029116835&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0029116835&partnerID=8YFLogxK

U2 - 10.1007/BF00210422

DO - 10.1007/BF00210422

M3 - Article

C2 - 7649556

AN - SCOPUS:0029116835

VL - 96

SP - 350

EP - 354

JO - Human Genetics

JF - Human Genetics

SN - 0340-6717

IS - 3

ER -