PT  - JOURNAL ARTICLE
AU  - A Wakisaka
AU  - H Sasaki
AU  - A Takada
AU  - T Fukazawa
AU  - Y Suzuki
AU  - T Hamada
AU  - K Iwabuchi
AU  - K Tashiro
AU  - T Yoshiki
TI  - Spinocerebellar ataxia 1 (SCA1) in the Japanese in Hokkaido may derive from a single common ancestry.
AID  - 10.1136/jmg.32.8.590
DP  - 1995 Aug 01
TA  - Journal of Medical Genetics
PG  - 590--592
VI  - 32
IP  - 8
4099  - http://jmg.bmj.com/content/32/8/590.short
4100  - http://jmg.bmj.com/content/32/8/590.full
SO  - J Med Genet1995 Aug 01; 32
AB  - Spinocerebellar ataxia 1 (SCA1) is caused by expansion of an unstable CAG triplet repeat located on the short arm of chromosome 6. Precise mapping has shown a positional relationship to closely linked markers in the order of D6S109-D6S274-D6S288-SCA1-AM10GA-D6S89+ ++-EDN1 from centromere to telomere. The haplotype which cosegregated with the disease was determined in 12 Japanese pedigrees with SCA1. Although the alleles of the SCA1 haplotype varied from pedigree to pedigree, depending on the distance from the SCA1 locus, the affected and presymptomatic subjects carried the same alleles at D6S288 and D6S274. All the families with SCA1 had migrated from either Miyagi or Yamagata Prefectures, neighbouring areas in the Tohoku District, the northern part of Honshu which is the main island of Japan. It seems highly likely that SCA1 in the Japanese, at least those residing in Hokkaido, derives from a single common ancestry.