title: Distribution of germline BAT-40 poly-adenine tract microsatellite variants in the Japanese.
abstract: Distribution of allelic variants of a poly-adenine tract microsatellite named BAT-40, locating at intron 2 of 3-beta-hydroxysteroid dehydrogenase gene, were investigated in 412 Japanese individuals free from mismatch repair gene defect. Out of them, 60 (14.6%) were heterozygotes for BAT-40, which is significantly lower than that reported in Europeans. Observed allelic variants in the Japanese ranged from 17- to 46-adenine repeats with different distribution pattern from those reported in the Americans or Europeans. These data will provide significant background knowledge for the evaluation of microsatellite instability in cancer DNA from the Japanese population.
authors.affiliation: First Department of Pathology, Hiroshima University School of Medicine, Minami-ku, Hiroshima 734-8551, Japan. hyoko@mcai.med.hiroshima-u.ac.jp
authors.forename: H
authors.initials: H
authors.lastname: Yokozaki
mesh_terms: D015096:3-Hydroxysteroid Dehydrogenases / Q000235:genetics*; D000483:Alleles; D004247:DNA / Q000235:genetics; D005787:Gene Frequency; D014644:Genetic Variation; D018095:Germ-Line Mutation; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007564:Japan; D018895:Microsatellite Repeats / Q000235:genetics*; D011061:Poly A / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D011061:Poly A; D004247:DNA; D015096:3-Hydroxysteroid Dehydrogenases