Haplotype analysis of common transthyretin mutations.
Haplotype analysis of common transthyretin mutations.
复制标题
常见转甲状腺素蛋白突变的单倍型分析。
DOI：
10.1007/bf00210422
复制
发表时间：
1995
期刊：
影响因子：
5.3
通讯作者：
Skinner,M
中科院分区：
文献类型：
--
作者：
Almeida,MR;Aoyama-Oishi,N;Sakaki,Y;Holmgren,G;Ulf,D;Ferlini,A;Salvi,F;Munar-Oués,M;Benson,MD;Skinner,M
与遗传性淀粉样变性相关的最常见的转甲状腺素（TTR）变异是TTR Met 30，其主要集中在葡萄牙，尽管它也发生在许多其他国家。突变的分布及其在CpG二核苷酸中的出现使我们质疑突变的起源及其起源于葡萄牙的可能性。为了调查这些问题，我们研究了与Met 30突变相关的单倍型在不同欧洲国家家庭中的分布。所有分析的葡萄牙家庭均表现出与Met 30突变相关的相同单倍型（单倍型I）。瑞典和西班牙家庭的研究也发现了同样的情况。然而，在意大利、英国和土耳其三个家族中发现了一个独特的单倍型（单倍型III）。这些结果表明，尽管葡萄牙的Met 30携带者可能有一个创始人，但该突变可能以与日本报道的相似的方式在欧洲人群中复发。在这项研究中，我们还分析了与葡萄牙人群中常见的其他TTR变异相关的单倍型。
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.