Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families
Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families
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DOI：
10.1007/s10048-007-0110-4
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发表时间：
2008-02-01
期刊：
影响因子：
2.2
通讯作者：
Matsuura, Tohru
中科院分区：
文献类型：
--
作者：
Saito, Tsukasa;Amakusa, Yoshinobu;Matsuura, Tohru
2型肌强直性营养不良（DM2）是由染色体3q21上ZNF9基因内含子1上的四核苷酸CCTG重复扩增引起的。所有研究的DM2突变都在白种人中报道，并且具有相同的单倍型，这表明有一个共同的创始人。我们鉴定了一名患有DM2的日本患者，并表明受影响的单倍型不同于先前鉴定的白种人共有的DM2单倍型。这些数据有力地表明，DM2扩增突变起源于欧洲和日本的不同创始人，并且比以前认识到的分布更广泛。
Myotonic dystrophy type 2 (DM2) is caused by expansion of a tetranucleotide CCTG repeat in intron 1 of the ZNF9 gene on chromosome 3q21. All studied DM2 mutations have been reported in Caucasians and share an identical haplotype, suggesting a common founder. We identified a Japanese patient with DM2 and showed that the affected haplotype is distinct from the previously identified DM2 haplotype shared among Caucasians. These data strongly suggest that DM2 expansion mutations originate from separate founders in Europe and Japan and are more widely distributed than previously recognized.