title: ACTBP2 gene frequency distribution and sequencing of the allelic ladder and variants in the Japanese and Chinese populations.
abstract: The human beta-actin related pseudogene H-beta-Ac-psi-2 (ACTBP2) gene frequency distributions in the Japanese and Chinese Han populations were investigated and compared. Analysis was carried out by applying fluorescently labeled samples and a differently labeled sequenced allelic ladder within the same lanes in denaturing gels, followed by laser detection and automated analysis using Genescan software 672. The discrimination index and the heterozygosity index were calculated to be 0.993 and 0.916 in the Japanese population, and 0.993 and 0.944 in the Chinese Han population, respectively. No deviation from Hardy-Weinberg equilibrium was observed in these two populations. The allelic ladder, which ranged from 233 bp to 319 bp, was constructed from a combination of 23 regularly occurring alleles. The allelic ladder and 12 variants observed in 24 individuals in these two populations were sequenced. The variants could be divided into three types according to their structural variation characteristics. These variants differed from the alleles of the same repeats in the allelic ladder by the presence or absence of hexanucleotides in the central repeat regions, base deletions in the flanking regions, and base insertions in the repeat units.
authors.affiliation: Department of Legal Medicine, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: C
authors.initials: C
authors.lastname: Liu
authors.forename: N
authors.initials: N
authors.lastname: Harashima
authors.forename: Y
authors.initials: Y
authors.lastname: Katsuyama
authors.forename: M
authors.initials: M
authors.lastname: Ota
authors.forename: A
authors.initials: A
authors.lastname: Arakura
authors.forename: H
authors.initials: H
authors.lastname: Fukushima
mesh_terms: D000199:Actins / Q000235:genetics*; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics*; D005787:Gene Frequency / Q000235:genetics*; D014644:Genetic Variation; D005828:Genetics, Population; D006801:Humans; D016133:Polymerase Chain Reaction; D011544:Pseudogenes / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics
chemical_list: D000199:Actins; D004247:DNA