Mutation rates at Y chromosome short tandem repeats in Texas populations

Jianye Ge, Bruce Budowle, Xavier G. Aranda, John V. Planz, Arthur J. Eisenberg, Ranajit Chakraborty

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72 Scopus citations


Father-son pairs from three populations (African American, Caucasian, and Hispanic) of Texas were typed for the 17 Y STR markers DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS456, DYS458, DYS635, DYS448, and Y GATA H4 using the AmpFlSTR® YfilerTM kit. With 49,578 allele transfers, 102 mutations were detected. One three-step and four two-step mutations were found, and all others (95.1%) were one-step mutations. The number of gains (48) and losses (54) of repeats were nearly similar. The average mutation rate in the total population is 2.1 × 10-3 per locus (95% CI (1.7-2.5) × 10-3). African Americans showed a higher mutation rate (3.0 × 10-3; 95% CI (2.4-4.0) × 10-3) than the Caucasians (1.7 × 10-3; 95% CI (1.1-2.5) × 10-3) and Hispanics (1.5 × 10-3; 95% CI (1.0-2.2) × 10-3), but grouped by repeat-lengths, such differences were not significant. Mutation is correlated with relative length of alleles, i.e., longer alleles are more likely to mutate compared with the shorter ones at the same locus. Mutation rates are also correlated with the absolute number of repeats, namely, alleles with higher number of repeats are more likely to mutate than the shorter ones (p-value = 0.030). Finally, occurrences of none, one, and two mutations over the father-son transmission of alleles were consistent with the assumption of independence of mutation rates across loci.

Original languageEnglish
Pages (from-to)179-184
Number of pages6
JournalForensic Science International: Genetics
Issue number3
StatePublished - Jun 2009


  • DNA forensics
  • DNA typing
  • Mutation rate
  • Short tandem repeat (STR)
  • Y chromosome


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