title: [Population genetic study of Huntington's disease--prevalence and founder's effect in the San-in area, western Japan].
abstract: In order to confirm the prevalence rate of Huntington's disease (HD) in San-in area, the epidemiological study was performed in 1997. Ten patients were found, so that the prevalence rate of HD was 0.72 per 100,000 population. D4S136 and CCG polymorphism were investigated in HD patients in western Japan, Chugoku Districts, including the San-in area. The frequency of D4S136A3(242bp) type was higher in HD group of San-in area than Chugoku District (each 38.5% and 9.1%). Twelve of 13 HD chromosomes in the San-in area had the (CCG)7 polymorphism, while only 36.4% of HD chromosomes of Chugoku District had the (CCG)7 polymorphism. Although the HD patients in the San-in area may have a common ancestor except for only one patient, the HD patients in other areas of Japan may have the different HD ancestor from the San-in area.
authors.affiliation: Division of Neurology, Faculty of Medicine, Tottori University.
authors.forename: Y
authors.initials: Y
authors.lastname: Adachi
authors.forename: K
authors.initials: K
authors.lastname: Nakashima
mesh_terms: D018703:Founder Effect; D006801:Humans; D006816:Huntington Disease / Q000453:epidemiology*; D007564:Japan / Q000453:epidemiology; D015995:Prevalence; D018911:Trinucleotide Repeats / Q000235:genetics