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Genetics and genomics of core short tandem repeat loci used in human identity testing
Authors:Butler John M
Institution: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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