Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families

T Saito, Y Amakusa, T Kimura, O Yahara, H Aizawa… - Neurogenetics, 2008 - Springer
T Saito, Y Amakusa, T Kimura, O Yahara, H Aizawa, Y Ikeda, JW Day, LPW Ranum, K Ohno
Neurogenetics, 2008Springer
Abstract 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 …
Abstract
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.
Springer
以上显示的是最相近的搜索结果。 查看全部搜索结果