title: [Structural polymorphism of ACTBP2 STR region].
abstract: We investigated structural polymorphisms of the ACTBP2-STR region by sequence analysis instead of using PCR-amplified fragment length polymorphisms. A gel spot extraction reamplification method using 2% agarose gel was effective for preparing the individual alleles from zygotes with a length difference of more than 16bp. In a survey of polymorphisms in 116 unrelated Japanese subjects, alleles from 73 zygotes were prepared by this method. The STR structure of the allele was determined from the forward sequence image. The allele designation was made according to the number of the repeated AAAG tetranucleotide and also the position of the inserted AA or AG dinucleotide. Forty-three zygotes impossible to separate were first sequenced in a forward direction. Among them, 28 zygotes were typed directly by analysing the sequence image which exhibited a peculiar overlap of two sequences. For the remaining 15 zygotes, it was possible to type by analysing the forward and reverse sequence images together. This investigation revealed the presence of 79 kinds of alleles in 116 zygotes of ACTBP2. The most frequent allele was type 19, which accounted for 9.5% although this was still a small portion. Genotypes 19/20, 19/21, 18/21, 18/10AA12, 19/13AA11 and 20/13AA15 were detected from two subjects, respectively, and others including the type 19 homozygyote were unique.
authors.affiliation: Department of Legal Medicine, Teikyo University School of Medicine, Tokyo, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Yoshii
authors.forename: E
authors.initials: E
authors.lastname: Takeda
authors.forename: K
authors.initials: K
authors.lastname: Shimada
authors.forename: K
authors.initials: K
authors.lastname: Akiyama
authors.forename: I
authors.initials: I
authors.lastname: Ishiyama
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics; D004247:DNA / Q000032:analysis; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D007564:Japan; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D004247:DNA