Journal of Molecular Evolution

, Volume 42, Issue 1, pp 22–29

Genetic variation of recent Alu insertions in human populations

Authors

  • Mark A. Batzer
    • Human Genome Center, L-452, Biology and Biotechnology Research ProgramLawrence Livermore National Laboratory
  • Santosh S. Arcot
    • Human Genome Center, L-452, Biology and Biotechnology Research ProgramLawrence Livermore National Laboratory
  • Joshua W. Phinney
    • Human Genome Center, L-452, Biology and Biotechnology Research ProgramLawrence Livermore National Laboratory
  • Michelle Alegria-Hartman
    • Human Genome Center, L-452, Biology and Biotechnology Research ProgramLawrence Livermore National Laboratory
  • David H. Kass
    • Department of Biochemistry and Molecular Biology, Center for Human and Molecular GeneticsLouisiana State University Medical Center
  • Stephen M. Milligan
    • DNA UnitMichigan State Police
  • Colin Kimpton
    • Forensic Science Service
  • Peter Gill
    • Forensic Science Service
  • Manfred Hochmeister
    • Department of Forensic MedicineUniversity of Bern
  • Panayiotis A. Ioannou
    • The Cyprus Institute of Neurology and Genetics
  • Rene J. Herrera
    • Department of Biological Sciences, Florida International UniversityUniversity Park Campus
  • Donald A. Boudreau
    • Department of PathologyLouisiana State University Medical Center
  • W. Douglas Scheer
    • Department of PathologyLouisiana State University Medical Center
  • Bronya J. B. Keats
    • Department of Biometry and Genetics, Center for Human and Molecular GeneticsLouisiana State University Medical Center
  • Prescott L. Deininger
    • Department of Biochemistry and Molecular Biology, Center for Human and Molecular GeneticsLouisiana State University Medical Center
    • Laboratory of Molecular GeneticsAlton Ochsner Medical Foundation
  • Mark Stoneking
    • Department of AnthropologyPennsylvania State University
Articles

DOI: 10.1007/BF00163207

Cite this article as:
Batzer, M.A., Arcot, S.S., Phinney, J.W. et al. J Mol Evol (1996) 42: 22. doi:10.1007/BF00163207

Abstract

The Alu family of intersperesed repeats is comprised of ovr 500,000 members which may be divided into discrete subfamilies based upon mutations held in common between members. Distinct subfamilies of Alu sequences have amplified within the human genome in recent evolutionary history. Several individual Alu family members have amplified so recently in human evolution that they are variable as to presence and absence at specific loci within different human populations. Here, we report on the distribution of six polymorphic Alu insetions in a survey of 563 individuals from 14 human population groups across several continents. Our results indicate that these polymorphic Alu insertions probably have an African origin and that there is a much smaller amount of genetic variation between European populations than that found between other populations groups.

Key words

Human evolutionAfrican originIdentical by descentPolymorphism
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Copyright information

© Springer-Verlag New York Inc 1996