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Genetics and Genomics of Core Short Tandem Repeat Loci Used in Human Identity Testing
Article first published online: 8 MAR 2006
Journal of Forensic Sciences
Volume 51, Issue 2, pages 253–265, March 2006
How to Cite
Butler, J. M. (2006), Genetics and Genomics of Core Short Tandem Repeat Loci Used in Human Identity Testing. Journal of Forensic Sciences, 51: 253–265. doi: 10.1111/j.1556-4029.2006.00046.x
- Issue published online: 8 MAR 2006
- Article first published online: 8 MAR 2006
- Received 25 April 2005; and in revised form 31 Aug. 2005; accepted 1 Oct. 2005; published 9 Feb. 2006.
- forensic science;
- DNA typing;
- short tandem repeat;
- mutation rate;
- Penta D;
- Penta E;
- national DNA databases;
ABSTRACT: Over the past decade, the human identity testing community has settled on a set of core short tandem repeat (STR) loci that are widely used for DNA typing applications. A variety of commercial kits enable robust amplification of these core STR loci. A brief history is presented regarding the selection of core autosomal and Y-chromosomal STR markers. The physical location of each STR locus in the human genome is delineated and allele ranges and variants observed in human populations are summarized as are mutation rates observed from parentage testing. Internet resources for additional information on core STR loci are reviewed. Additional topics are also discussed, including potential linkage of STR loci to genetic disease-causing genes, probabilistic predictions of sample ethnicity, and desirable characteristics for additional STR loci that may be added in the future to the current core loci. These core STR loci, which form the basis for DNA databases worldwide, will continue to play an important role in forensic science for many years to come.