Mutation rates of 15 X chromosomal short tandem repeat markers

Toni M. Diegoli, Adrian Linacre, Moses S. Schanfield, Michael D. Coble

Research output: Contribution to journalArticlepeer-review

16 Scopus citations


Though allele frequency data for a variety of X chromosomal short tandem repeat (STR) markers in a range of populations have been reported, fewer studies of mutation rates in these same markers or populations are available. In order to address possible mismatches during kinship analysis due to mutation, a robust estimate of the rate of mutation must be established. Here, mutation rates in three US populations have been determined for a total of 15 markers (DXS6789, DXS9902, DXS7132, DXS7130, DXS6795, DXS10147, DXS8378, DXS7423, HPRTB, DXS101, DXS7424, GATA31E08, GATA172D05, GATA165B12, and DXS6803). Eighteen mutations over 20,625 meioses were observed, and the overall X STR mutation rate in this study was found to be 8.73 × 10-4 (95 % CI, 5.2-13.8 × 10-4). A review of published mutation rate studies revealed similar findings in other global populations, and allowed the compilation of a combined dataset of 81,310 meioses which can be employed by the forensic community.

Original languageEnglish
Pages (from-to)579-587
Number of pages9
JournalInternational journal of legal medicine
Issue number4
StatePublished - Jul 2014


  • Identity testing
  • Kinship testing
  • Mutation rate
  • US population
  • X chromosome


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