Journal of Molecular Evolution

, Volume 42, Issue 1, pp 22–29

Genetic variation of recent Alu insertions in human populations

  • Mark A. Batzer
  • Santosh S. Arcot
  • Joshua W. Phinney
  • Michelle Alegria-Hartman
  • David H. Kass
  • Stephen M. Milligan
  • Colin Kimpton
  • Peter Gill
  • Manfred Hochmeister
  • Panayiotis A. Ioannou
  • Rene J. Herrera
  • Donald A. Boudreau
  • W. Douglas Scheer
  • Bronya J. B. Keats
  • Prescott L. Deininger
  • Mark Stoneking
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

Copyright information

© Springer-Verlag New York Inc 1996

Authors and Affiliations

  • Mark A. Batzer
    • 1
  • Santosh S. Arcot
    • 1
  • Joshua W. Phinney
    • 1
  • Michelle Alegria-Hartman
    • 1
  • David H. Kass
    • 2
  • Stephen M. Milligan
    • 3
  • Colin Kimpton
    • 4
  • Peter Gill
    • 4
  • Manfred Hochmeister
    • 5
  • Panayiotis A. Ioannou
    • 6
  • Rene J. Herrera
    • 7
  • Donald A. Boudreau
    • 8
  • W. Douglas Scheer
    • 8
  • Bronya J. B. Keats
    • 9
  • Prescott L. Deininger
    • 2
    • 10
  • Mark Stoneking
    • 11
  1. 1.Human Genome Center, L-452, Biology and Biotechnology Research ProgramLawrence Livermore National LaboratoryCALivermoreUSA
  2. 2.Department of Biochemistry and Molecular Biology, Center for Human and Molecular GeneticsLouisiana State University Medical CenterNew OrleansUSA
  3. 3.DNA UnitMichigan State PoliceEast LansingUSA
  4. 4.Forensic Science ServiceBirminghamUK
  5. 5.Department of Forensic MedicineUniversity of BernBernSwitzerland
  6. 6.The Cyprus Institute of Neurology and GeneticsNicosiaCyprus
  7. 7.Department of Biological Sciences, Florida International UniversityUniversity Park CampusMiamiUSA
  8. 8.Department of PathologyLouisiana State University Medical CenterNew OrleansUSA
  9. 9.Department of Biometry and Genetics, Center for Human and Molecular GeneticsLouisiana State University Medical CenterNew OrleansUSA
  10. 10.Laboratory of Molecular GeneticsAlton Ochsner Medical FoundationNew OrleansUSA
  11. 11.Department of AnthropologyPennsylvania State UniversityUniversity ParkUSA