title: Locus ACTBP2 (SE33). Sequencing data reveal considerable polymorphism.
abstract: A total of 50 different ACTBP2 (human beta-actin related pseudogene) alleles and the cell line K562 were sequenced and analysed. Sequence data revealed not only length polymorphism but also a highly variable sequence polymorphism. 2 different sequence structures were characterised. Type I (223-259bp) contained the known regular 4bp repeat AAAG. Type II (265-309bp) revealed a further hexanucleotide unit AAAAAG in addition to the common AAAG which only occurs once in the repeat region. The position of this insertion showed considerable variation. To obtain a regular spaced allelic ladder 20 of the sequenced alleles were selected. Denaturing gels and high resolution/non-denaturing gels were compared and striking differences could be seen between the 2 gel systems. Separation of the alleles on a 6% denaturing gel and analysis on the ABI 373A Sequencer revealed fragment sizes which corresponded to the sequencing data but were in general 6-10bp longer. In contrast, in non-denaturing gels some alleles showed different electrophoretic mobilities compared to the sequenced allelic ladder which could indicate different fragment length and/or different sequence structure.
authors.affiliation: Institute of Legal Medicine, Westfälische Wilhelms-Universität, Münster, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Möller
authors.forename: B
authors.initials: B
authors.lastname: Brinkmann
mesh_terms: D000199:Actins / Q000235:genetics*; D000483:Alleles; D001483:Base Sequence; D002460:Cell Line; D014644:Genetic Variation; D006801:Humans; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011544:Pseudogenes / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid; D015203:Reproducibility of Results
chemical_list: D000199:Actins; D009838:Oligodeoxyribonucleotides