A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in western Japan.
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.
Terasawa
Hideo
H
Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical Sciences, Hiroshima 734-8551, Japan.
Oda
Masaya
M
Morino
Hiroyuki
H
Miyachi
Takafumi
T
Izumi
Yuishin
Y
Maruyama
Hirofumi
H
Matsumoto
Masayasu
M
Kawakami
Hideshi
H
D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D015220:Calcium Channels / Q000235:genetics*; D016009:Chi-Square Distribution; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D007564:Japan / Q000453:epidemiology; D018895:Microsatellite Repeats / Q000235:genetics; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D015995:Prevalence; D020754:Spinocerebellar Ataxias / Q000453:epidemiology* / Q000235:genetics*; D020864:Calcium Channels, N-Type
D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type