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Unformatted text preview: John M. Butler, 1 Ph.D. Genetics and Genomics of Core Short Tandem Repeat Loci Used in Human Identity Testing 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. KEYWORDS: forensic science, DNA typing, short tandem repeat, mutation rate, CSF1PO, FGA, TH01, TPOX, VWA, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D21S11, D2S1338, D19S433, Penta D, Penta E, SE33, CODIS, national DNA databases, Y- STR, Y-chromosome, DYS19, DYS385, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, Y-GATA-H4 It has been almost a decade since the 13 genetic markers that form the core of the FBI Laboratory’s Combined DNA Index System (CODIS) were selected in November 1997. Because of their use in the U.S. national DNA database (NDNAD) as well as other criminal justice databases around the world, these short tan- dem repeat (STR) loci dominate the genetic information that has been collected to date on human beings (1–3). In the U.S. and U.K. alone, more than 5 million profiles now exist in criminal justice DNA databases that contain information from these core loci or a subset (4,5). In addition, almost 1 million samples are run annually with core STR loci as part of parentage testing (6). The 13 CODIS loci used in the U.S. are CSF1PO, FGA, TH01, TPOX, VWA, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, and D21S11 (7). The U.K. and much of Eu- rope utilize 10 core loci that include the additional markers D2S1338 and D19S433 along with eight overlapping loci FGA, TH01, VWA, D3S1358, D8S1179, D16S539, D18S51, and D21S11. These loci have become the common currency of data exchange for human identity testing both in forensic casework and paternity testing largely because of their ease of use in the form of commercial STR kits. Missing persons investigations and mass disaster victim identification typically also involve the same STR markers and kits (8,9)....
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This note was uploaded on 09/08/2010 for the course JS 113 at San Jose State.
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