Y-STR Mutation Rate Determination


Participants: Amy E. Decker, Margaret C. Kline, Janette W. Redman, and  John M. Butler (and Thomas M. Reid of DNA Diagnostics)


Project Timeframe: September 2005 to present


Purpose: Y-chromosome short tandem repeats (Y-STRs) have proven beneficial in a number of fields and applications including paternity, anthropology and genealogy studies. An increasing number of forensic DNA laboratories are adopting Y-STR analyses into their routine casework, especially since the release of commercially available kits. Reliable estimations of mutation rates for these loci are a valuable asset to assist in the interpretation of Y-STR test results when these markers are used in missing persons, mass disaster, or paternity investigations.


Progress: We have examined 389 father/son sample pairs from U.S. Caucasians, African Americans, Hispanics and Asians using the 17 Y-STR loci in the Yfiler kit and observed a total of 24 differences between father and son. Thirteen mutations resulted in the gain of a repeat in the son and 11 resulted in a loss of a repeat. All samples resulted in single repeat mutations except one sample which contained a two repeat loss at Y-GATA-H4. Furthermore, two different sample pairs were found to have two mutations. An African American sample pair had a mutation at DYS458 and a second at DYS635 and an Asian sample pair had mutations at DYS439 and Y-GATA-H4. Our work represents the first study with father/son sample pairs from major U.S. populations using the Yfiler loci.


Publications or Presentations Resulting From This Project:

Decker, A.E., Kline, M.C., Redman, J.W., Reid, T.M., Butler, J.M. (2007) Analysis of mutations in father-son pairs with 17 Y-STR loci. submitted.


Amy Decker poster at 58th Annual Meeting of the American Academy of Forensic Sciences (Seattle, WA), February 23, 2006, "Examination of Additional Y-STR Loci for Increased Resolution of Common Haplotypes" [.pdf]


John Butler workshop with Mike Coble to Northeastern Association of Forensic Scientists (NEAFS) (Rye Brook, NY), November 1, 2006, "Y-Chromosome and Mitochondrial DNA Analysis" [link to workshop webpage]

John Butler seminar at California Department of Justice DNA Laboratory (Richmond, CA), March 7, 2007, "Y-STRs: Markers, Mutations, and More" [.pdf]


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Last updated: 06/20/2007


Disclaimer: This project was supported by National Institute of Justice Grant Number 2003-IJ-R-029, which is an interagency agreement between NIJ and the NIST Office of Law Enforcement Standards, awarded by the National Institute of Justice, Office of Justice Programs, US Department of Justice. Points of view in this document are those of the authors and do not necessarily represent the official position or policies of the US Department of Justice. Certain commercial equipment, instruments and materials are identified in order to specify experimental procedures as completely as possible.  In no case does such identification imply a recommendation or endorsement by the National Institute of Standards and Technology nor does it imply that any of the materials, instruments or equipment identified are necessarily the best available for the purpose.