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