Abstract:
:The highest prevalence rate of spinocerebellar ataxia type 6 (SCA6) in the worldwide population is in the Chugoku and Kansai areas of Western Japan, but the reason of this geographic characteristics is unclear. We investigated the predisposing haplotypes and their geographic distribution. Genotyping of five microsatellite markers and three single nucleotide polymorphisms linked to the CACNA1A gene in 150 Japanese SCA6 patients from unrelated 118 families revealed three major haplotypes, carrying a pool of one common haplotype core. A founder chromosome was thought to have historically diverged into at least three types. One of the major haplotypes newly identified showed a strong geographical cluster around the Seto Inland Sea in the Chugoku and Kansai areas of Western Japan, whereas the others were widely distributed throughout Japan. The distribution of predisposing haplotypes contributes to the geographical differences in prevalence of SCA6.
journal_name
Neurosci Lettjournal_title
Neuroscience lettersauthors
Terasawa H,Oda M,Morino H,Miyachi T,Izumi Y,Maruyama H,Matsumoto M,Kawakami Hdoi
10.1016/j.neulet.2004.01.007keywords:
subject
Has Abstractpub_date
2004-03-25 00:00:00pages
107-10issue
2eissn
0304-3940issn
1872-7972pii
S0304394004000485journal_volume
358pub_type
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