Interspersed Repeat Insertion Polymorphisms for Studies of Human Molecular Anthropology

  • Prescott L. Deininger
  • Stephen T. Sherry
  • Gregory Risch
  • Chadwick Donaldson
  • Myles B. Robichaux
  • Himla Soodyall
  • Trefor Jenkins
  • Fang-miin Sheen
  • Gary Swergold
  • Mark Stoneking
  • Mark A. Batzer

Abstract

The recent insertion of mobile elements, of the Alu and L1 families, in the human genome provides a distinct class of polymorphism in the human genome. Because the insertion of these elements in the genome is so rare and once they are inserted they are stable; they represent a unique group of markers that are identical by descent. This type of marker is among the most informative in ascertaining relationships between individuals and populations. The assays for these markers are extremely robust, easy to perform, and readily adaptable to mass analysis and automation. In addition, as the insertion alleles are all newly arisen, the ancestral allele is always the allele missing the insertion. This information allows estimations of the roots of trees, which are not possible with all types of markers. The greatest potential for these markers is with upcoming developments that will allow the identification of new insertions in many different genomes simultaneously. These procedures will allow investigators to isolate markers that are particularly informative for specific populations and allow development of panels of markers tailored for particular populations.

Keywords

Recombination Agarose Electrophoresis Sine Lution 

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Copyright information

© Springer Science+Business Media New York 1999

Authors and Affiliations

  • Prescott L. Deininger
    • 1
    • 2
  • Stephen T. Sherry
    • 3
  • Gregory Risch
    • 3
  • Chadwick Donaldson
    • 3
  • Myles B. Robichaux
    • 3
  • Himla Soodyall
    • 4
  • Trefor Jenkins
    • 4
  • Fang-miin Sheen
    • 5
  • Gary Swergold
    • 5
  • Mark Stoneking
    • 6
  • Mark A. Batzer
    • 3
    • 7
  1. 1.Tulane Cancer Center SL-66 and the Dept. of Environmental Health SciencesTulane University Medical CenterNew OrleansUSA
  2. 2.Laboratory of Molecular GeneticsAlton Ochsner Medical FoundationNew OrleansUSA
  3. 3.Depts. of Pathology, Biometry and Genetics, Biochemistry and Molecular BiologyLouisiana State University Medical CenterNew OrleansUSA
  4. 4.Department of Human Genetics, The South African Instate for Medical ResearchUniversity of WitwatersrandJohannesburgSouth Africa
  5. 5.Division of Molecular Medicine, Department of MedicineColumbia UniversityNew YorkUSA
  6. 6.Dept. of AnthropologyPennsylvania State UniversityUniversity ParkUSA
  7. 7.Stanley S. Scott Cancer Center, Neuroscience Center of ExcellenceLouisiana State University Medical CenterNew OrleansUSA

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