A preliminary mitochondrial DNA SNP genotyping assay for inferring genealogy

Dennis McNevin, Alex Bate, Runa Daniel, Simon Walsh

    Research output: Contribution to journalArticle

    3 Citations (Scopus)

    Abstract

    The description of phenotypic traits as a result of eyewitness accounts at crime scenes is a standard police practice. Traditional facial composites have been enhanced more recently by computer-aided photofitting techniques. The ‘silent witness’ of DNA evidence also has the potential to provide ‘molecular photofits’. Ancestry as a phenotypic trait is particularly amenable to molecular photofitting as the establishment of human origins through mitochondrial DNA (mtDNA) and Y chromosome haplotyping has been the subject of much recent interest. In this study, a multiplex mtDNA single nucleotide polymorphism (SNP) genotyping assay was devised to assign maternally inherited mtDNA to one of 15 haplogroups using 11 defining SNPs and a deletion. 145 DNA samples were unambiguously assigned to one of 12 haplogroups (three haplogroups were not present) and these were associated with the self-declared genealogy of the donor and that of their mother and maternal grandmother. The assay demonstrated the potential to discriminate between self-declared African, Asian or ‘non-indigenous Australian’ (European) ancestry with 71%, 88% and 90% accuracy, respectively. Larger DNA sample populations that include Y chromosome and autosomal markers have the potential to predict ancestry with finer detail.
    Original languageEnglish
    Pages (from-to)39-51
    Number of pages13
    JournalAustralian Journal of Forensic Sciences
    Volume43
    Issue number1
    DOIs
    Publication statusPublished - 2011

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    Genealogy and Heraldry
    Mitochondrial DNA
    Single Nucleotide Polymorphism
    Y Chromosome
    DNA
    Mothers
    Police
    Crime
    Genetic Markers
    Tissue Donors
    Population

    Cite this

    McNevin, Dennis ; Bate, Alex ; Daniel, Runa ; Walsh, Simon. / A preliminary mitochondrial DNA SNP genotyping assay for inferring genealogy. In: Australian Journal of Forensic Sciences. 2011 ; Vol. 43, No. 1. pp. 39-51.
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    abstract = "The description of phenotypic traits as a result of eyewitness accounts at crime scenes is a standard police practice. Traditional facial composites have been enhanced more recently by computer-aided photofitting techniques. The ‘silent witness’ of DNA evidence also has the potential to provide ‘molecular photofits’. Ancestry as a phenotypic trait is particularly amenable to molecular photofitting as the establishment of human origins through mitochondrial DNA (mtDNA) and Y chromosome haplotyping has been the subject of much recent interest. In this study, a multiplex mtDNA single nucleotide polymorphism (SNP) genotyping assay was devised to assign maternally inherited mtDNA to one of 15 haplogroups using 11 defining SNPs and a deletion. 145 DNA samples were unambiguously assigned to one of 12 haplogroups (three haplogroups were not present) and these were associated with the self-declared genealogy of the donor and that of their mother and maternal grandmother. The assay demonstrated the potential to discriminate between self-declared African, Asian or ‘non-indigenous Australian’ (European) ancestry with 71{\%}, 88{\%} and 90{\%} accuracy, respectively. Larger DNA sample populations that include Y chromosome and autosomal markers have the potential to predict ancestry with finer detail.",
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    A preliminary mitochondrial DNA SNP genotyping assay for inferring genealogy. / McNevin, Dennis; Bate, Alex; Daniel, Runa; Walsh, Simon.

    In: Australian Journal of Forensic Sciences, Vol. 43, No. 1, 2011, p. 39-51.

    Research output: Contribution to journalArticle

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