Haplotype analysis of common transthyretin mutations |
| |
| Authors: | 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 |
| |
| Institution: | (1) Centro de Estudos de Paramiloidose, Hospital de Santo Antonio, P-4050 Porto, Portugal;(2) Instituto de Ciências Biomédicas de Abel Salazar, Universidade do Porto, Porto, Portugal;(3) Human Genome Center, Institute of Medical Science, University of Tokyo, Tokyo, Japan;(4) Department of Clinical Genetics, University Hospital, Umea, Sweden;(5) Research Archives, Umea University, Umea;(6) Istituto di Tecnologie Biomediche Avanzate — CNR, Milano, Italy;(7) Department of Neurology, University of Bologna at Bellaria Hospital, Bologna, Italy;(8) Grupo de Estudio PAF, Hospital General de Maiorca, Maiorca, Spain;(9) Department of Medicine and Medical Genetics, Indiana University School of Medicine, Indianopolis, Indiana, USA;(10) Arthritis Center and Department of Medicine, Boston University School of Medicine, Boston, USA |
| |
| 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. |
| |
| Keywords: | |
| 本文献已被 SpringerLink 等数据库收录！ |
|
