title: D5S2500 is an ambiguously characterized STR: Identification and description of forensic microsatellites in the genomics age.
abstract: In the process of establishing short tandem repeat (STR) sequence variant nomenclature guidelines in anticipation of expanded forensic multiplexes for massively parallel sequencing (MPS), it was discovered that the STR D5S2500 has multiple positions and genomic characteristics reported. This ambiguity is because the marker named D5S2500 consists of two different microsatellites forming separate components in the capillary electrophoresis multiplexes of Qiagen's HDplex (Hilden, Germany) and AGCU ScienTech's non-CODIS STR 21plex (Wuxi, Jiangsu, China). This study outlines the genomic details used to identify each microsatellite and reveals the D5S2500 marker in HDplex has the correctly assigned STR name, while the D5S2500 marker in the AGCU 21plex, closely positioned a further 1643 nucleotides in the human reference sequence, is an unnamed microsatellite. The fact that the D5S2500 marker has existed as two distinct STR loci undetected for almost ten years, even with reported discordant genotypes for the standard control DNA, underlines the need for careful scrutiny of the genomic properties of forensic STRs, as they become adapted for sequence analysis with MPS systems. We make the recommendation that precise chromosome location data must be reported for any forensic marker under development but not in common use, so that the genomic characteristics of the locus are validated to the same level of accuracy as its allelic variation and forensic performance. To clearly differentiate each microsatellite, we propose the name D5S2800 be used to identify the Chromosome-5 STR in the AGCU 21plex.
authors.affiliation: Forensic Genetics Unit, Institute of Forensic Sciences, University of Santiago de Compostela, Santiago de Compostela, Spain. Electronic address: c.phillips@mac.com.
authors.forename: C
authors.initials: C
authors.lastname: Phillips
authors.affiliation: Institute of Legal Medicine, Medical University of Innsbruck, Innsbruck, Austria; Forensic Science Program, The Pennsylvania State University, PA, USA.
authors.forename: W
authors.initials: W
authors.lastname: Parson
authors.affiliation: Galician Public Foundation in Genomics Medicine (FPGMX), Santiago de Compostela, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Amigo
authors.affiliation: Institute of Applied Genetics, Department of Molecular and Medical Genetics, University of North Texas Health Science Center, 3500Camp Bowie Blvd., Fort Worth, TX 76107, USA.
authors.forename: J L
authors.initials: JL
authors.lastname: King
authors.affiliation: U.S. National Institute of Standards and Technology, Applied Genetics Group, Biomolecular Measurement Division, 100 Bureau Drive, Gaithersburg, MD 20899, USA.
authors.forename: M D
authors.initials: MD
authors.lastname: Coble
authors.affiliation: U.S. National Institute of Standards and Technology, Applied Genetics Group, Biomolecular Measurement Division, 100 Bureau Drive, Gaithersburg, MD 20899, USA.
authors.forename: C R
authors.initials: CR
authors.lastname: Steffen
authors.affiliation: U.S. National Institute of Standards and Technology, Applied Genetics Group, Biomolecular Measurement Division, 100 Bureau Drive, Gaithersburg, MD 20899, USA.
authors.forename: P M
authors.initials: PM
authors.lastname: Vallone
authors.affiliation: U.S. National Institute of Standards and Technology, Applied Genetics Group, Biomolecular Measurement Division, 100 Bureau Drive, Gaithersburg, MD 20899, USA.
authors.forename: K B
authors.initials: KB
authors.lastname: Gettings
authors.affiliation: U.S. National Institute of Standards and Technology, Applied Genetics Group, Biomolecular Measurement Division, 100 Bureau Drive, Gaithersburg, MD 20899, USA; U.S. National Institute of Standards and Technology, Special Programs Office, 100 Bureau Drive, Mail Stop 4701, Gaithersburg, MD 20899, USA.
authors.forename: J M
authors.initials: JM
authors.lastname: Butler
authors.affiliation: Institute of Applied Genetics, Department of Molecular and Medical Genetics, University of North Texas Health Science Center, 3500Camp Bowie Blvd., Fort Worth, TX 76107, USA; Center of Excellence in Genomic Medicine Research (CEGMR), King Abdulaziz University, Jeddah, Saudi Arabia.
authors.forename: B
authors.initials: B
authors.lastname: Budowle
mesh_terms: D016172:DNA Fingerprinting; D019075:Electrophoresis, Capillary; D005787:Gene Frequency; D005819:Genetic Markers; D006801:Humans; D018895:Microsatellite Repeats; D060885:Multiplex Polymerase Chain Reaction
chemical_list: D005819:Genetic Markers
keywords: AGCU 21plex; D5S2500; Non CODIS STRs; Qiagen HDplex; STRs; Short tandem repeats; miniSTRs