ABSTRACT

Short tandem repeat (STR) loci have become a standard genetic tool for population studies, conservation genetics, evolutionary modeling, disease association studies, and human

10.1 Introduction 199 10.2 Molecular Biology of Interrupted Repeats 201 10.3 Mutation Modeling for STRs 203 10.4 Population Observations 207 10.5 Value to Forensic Investigations 212 10.6 Conclusions 215 References 215

identity testing analyses worldwide (Budowle and Chakraborty 2001; Crosby et al. 2009; Jorde et al. 1997; Wang et al. 2005; Weber and Broman 2001). Suites of loci, such as the 13-locus Combined DNA Index System (CODIS) STR panel in the United States (Butler 2006) and the recently expanded European STR panel (Ge et al. 2009; Gill et al. 2006a,b), oen provide sucient information for evaluating population structure, genetic diversity, and allele attribution in parent-ospring relationships (Jorde et al. 1997; Kruckenhauser et al. 2009; Peacock et al. 2002; Presciuttini et al. 2003). STR loci are abundant within genomes and in combination they oer the high levels of individual dierentiation necessary for many analyses. e identication and implementation of STR loci is adaptable to applications in conservation genetics, phylogenetics, and population studies. Microsatellite-enriched genomic libraries can be quickly constructed for unrepresented species, targeting specic STR sequence motifs (Hamilton et al. 1999; Julian and King 2003; Trujillo and Amelon 2009). More recently, human population studies have utilized the wealth of data available on microsatellite markers revealed in the various components of the Human Genome Project (Mammalian Genotyping Service 2011; McIver et al. 2011; NCBI Human Reference Genome Build 2009).