Investigation of X-STR haplotype diversity in the Australian Aboriginal population

Rhianna Curtis, Denise Ward, Duncan Taylor, Julianne Henry

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)


X-chromosome short tandem repeat (X-STR) analysis complements autosomal and Y-chromosome STR typing for complex kinship analysis and screening of candidate lists in familial searches. To statistically evaluate X-STR profiling results, Australian forensic laboratories require X-STR haplotype frequency databases for relevant populations. Our study is the first to report haplotype data for the Australian Aboriginal population. X-STR haplotypes were generated for 298 self-declared male Aboriginals using the Investigator® Argus X-12 Kit. Haplotype frequencies and parameters of forensic interest are presented. The discrimination power of a full haplotype was 98.7% and the cumulative power of discrimination was 0.9999999988 for males and 0.999999999999999 for females. MDS plots of pairwise FST genetic distances and STRUCTURE histograms identified some segregation of X-STR haplotypes between individuals from the Desert and Eyre regions as compared to the Spencer, Riverine and urban Adelaide regions. Comparison of Australian Aboriginal X-STR haplotypes to those of other global populations showed the most similarity to Europeans and least similarity with Asian populations. Ancestral X-STR haplotypes appeared most conserved in the outback Desert and Eyre regions where assimilation with Europeans is lower. Overall genetic structure was minimal and a single X-STR haplotype database combining all regions is considered appropriate for likelihood ratio calculation.

Original languageEnglish
Pages (from-to)547-559
Number of pages13
JournalAustralian Journal of Forensic Sciences
Issue number4
Early online date7 Mar 2022
Publication statusPublished - 2023


  • argus X-12 QS kit
  • Australian aboriginal
  • haplotype data
  • population genetics
  • X chromosome
  • X-STR


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