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PCR Typing of Alu Elements — Molecular Genetics and Forensic Application

  • Peter M. Schneider
  • Lin Zhang
  • Christina Esdar
  • Gabriele Rittner
  • Mark A. Batzer
  • Christian Rittner
Conference paper
Part of the Advances in Forensic Haemogenetics book series (HAEMOGENETICS, volume 6)

Abstract

Alu repeats belong to the family of short interspersed elements (SINEs) and are among the most abundant repetitive DNA sequences in the mammalian genome. They represent mobile genetic elements ancestrally derived from the 7SL RNA gene and have presumably spread within the genome by retroposition (reviewed in [1]). A particular group of Alu repeats appears to be human-specific (HS subfamily) and has expanded only recently within the human genome as indicated by distinct dimorphisms at various loci due to the presence or absence of an Alu repeat. In recent extensive studies, the frequency distributions of Alu insertions at selected loci in various human racial groups and populations were determined. Significant differences in frequency distribution between these populations were observed which could be used to determine the evolutionary origin as well as the phylogenetic relationship between racial groups [2,3]. These genetic markers should therefore be useful to obtain clues on the race of an unknown stain donor in forensic casework. In the present study, we have determined the frequency and segregation behaviour of Alu insertions at six loci in the German population.

Keywords

German Population Mobile Genetic Element Heterozygous Genotype Forensic Application Segregation Behaviour 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. 1.
    Deininger PL, Batzer MA (1993) Evolution of retroposons. Evolutionary Biol 27:157–196CrossRefGoogle Scholar
  2. 2.
    Batzer MA, Stoneking M, Alegria-Hartman M, Bazan H, Kass DH et al. (1994) African origin of human-specific Alu insertions. Proc Natl Acad Sci USA 91:12288-PubMedCrossRefGoogle Scholar
  3. 3.
    Batzer MA, Arcot SS, Phinney JW, Alegria-Hartman M, Kass DH, et al. (1996) Genetic variation of recent Alu insertions in human populations. J Mol Evol (in press)Google Scholar
  4. 4.
    Guo SW, Thompson EA (1992) Performing the exact test of Hardy-Weinberg proportion for multiple alleles. Biometrics 48:361–372PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1996

Authors and Affiliations

  • Peter M. Schneider
    • 1
  • Lin Zhang
    • 1
  • Christina Esdar
    • 1
  • Gabriele Rittner
    • 1
  • Mark A. Batzer
    • 2
  • Christian Rittner
    • 1
  1. 1.Institute of Legal MedicineJohannes Gutenberg UniversityMainzGermany
  2. 2.Dept. of Pathology, Stanley S. Scott Cancer CenterLouisiana State University Medical CenterNew OrleansUSA

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