Inference of human geographic origins using Alu insertion polymorphisms

    Authors

    D. A. Ray; J. A. Walker; A. Hall; B. Llewellyn; J. Ballantyne; A. T. Christian; K. Turteltaub;M. A. Batzer

    Comments

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    Abbreviated Journal Title

    Forensic Sci.Int.

    Keywords

    forensic genomics; Ala; geographic affiliation; PCR; HUMAN GENOMIC DIVERSITY; POLYMERASE-CHAIN-REACTION; MULTILOCUS GENOTYPE; DATA; ALLELE FREQUENCIES; SEQUENCE VARIATION; GENETIC-VARIATION; DNA; POPULATIONS; REPEATS; LOCI; Medicine, Legal

    Abstract

    The inference of an individual's geographic ancestry or origin can be critical in narrowing the field of potential suspects in a criminal investigation. Most current technologies rely on single nucleotide polymorphism (SNP) genotypes to accomplish this task. However, SNPs can introduce homoplasy into an analysis since they can be identical-by-state. We introduce the use of insertion polymorphisms based on short interspersed elements (SINEs) as a potential alternative to SNPs. SINE polymorphisms are identical-by-descent, essentially homoplasy-free, and inexpensive to genotype using a variety of approaches. Herein, we present results of a blind study using 100 Alu insertion polymorphisms to infer the geographic ancestry of 18 unknown individuals from a variety of geographic locations. Using a Structure analysis of the Alu insertion polymorphism-based genotypes, we were able to correctly infer the geographic affiliation of all 18 unknown human individuals with high levels of confidence. This technique to infer the geographic affiliation of unknown human DNA samples will be a useful tool in forensic genomics. (c) 2004 Elsevier Ireland Ltd. All rights reserved.

    Journal Title

    Forensic Science International

    Volume

    153

    Issue/Number

    2-3

    Publication Date

    1-1-2005

    Document Type

    Article

    Language

    English

    First Page

    117

    Last Page

    124

    WOS Identifier

    WOS:000232251300003

    ISSN

    0379-0738

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