title: STR allele sequence variation: Current knowledge and future issues.
abstract: This article reviews what is currently known about short tandem repeat (STR) allelic sequence variation in and around the twenty-four loci most commonly used throughout the world to perform forensic DNA investigations. These STR loci include D1S1656, TPOX, D2S441, D2S1338, D3S1358, FGA, CSF1PO, D5S818, SE33, D6S1043, D7S820, D8S1179, D10S1248, TH01, vWA, D12S391, D13S317, Penta E, D16S539, D18S51, D19S433, D21S11, Penta D, and D22S1045. All known reported variant alleles are compiled along with genomic information available from GenBank, dbSNP, and the 1000 Genomes Project. Supplementary files are included which provide annotated reference sequences for each STR locus, characterize genomic variation around the STR repeat region, and compare alleles present in currently available STR kit allelic ladders. Looking to the future, STR allele nomenclature options are discussed as they relate to next generation sequencing efforts underway.
authors.affiliation: U.S National Institute of Standards and Technology, Biomolecular Measurement Division, 100 Bureau Drive, Gaithersburg, MD 20899, USA. Electronic address: katherine.gettings@nist.gov.
authors.forename: Katherine Butler
authors.initials: KB
authors.lastname: Gettings
authors.affiliation: The George Washington University, Department of Forensic Sciences, 2100 Foxhall Road NW, Washington, DC 20007, USA. Electronic address: raponte@gwu.edu.
authors.forename: Rachel A
authors.initials: RA
authors.lastname: Aponte
authors.affiliation: U.S National Institute of Standards and Technology, Biomolecular Measurement Division, 100 Bureau Drive, Gaithersburg, MD 20899, USA. Electronic address: peter.vallone@nist.gov.
authors.forename: Peter M
authors.initials: PM
authors.lastname: Vallone
authors.affiliation: U.S. National Institute of Standards and Technology, Special Programs Office, 100 Bureau Drive, Gaithersburg, MD 20899, USA. Electronic address: john.butler@nist.gov.
authors.forename: John M
authors.initials: JM
authors.lastname: Butler
mesh_terms: D000483:Alleles; D016172:DNA Fingerprinting / Q000379:methods / Q000639:trends; D053803:Forensic Genetics / Q000379:methods* / Q000639:trends; D014644:Genetic Variation; D005828:Genetics, Population; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods / Q000639:trends; D006801:Humans; D018895:Microsatellite Repeats; D017422:Sequence Analysis, DNA / Q000379:methods / Q000639:trends
keywords: DNA database; Forensic DNA; STR loci; STR nomenclature; Sequence variation; Short tandem repeat