Genetics and genomics of core short tandem repeat loci used in human identity testing |
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Authors: | Butler John M |
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Institution: | National Institute of Standards and Technology, Gaithersburg, MD 20899-8311, USA. john.butler@nist.gov |
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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. |
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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 |
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