STR allele sequence variation: Current knowledge and future issues

Katherine Butler Gettings; Rachel A Aponte; Peter M Vallone; John M Butler

doi:10.1016/j.fsigen.2015.06.005

STR allele sequence variation: Current knowledge and future issues

Forensic Sci Int Genet. 2015 Sep:18:118-30. doi: 10.1016/j.fsigen.2015.06.005. Epub 2015 Jul 6.

Authors

Katherine Butler Gettings¹, Rachel A Aponte², Peter M Vallone³, John M Butler⁴

Affiliations

¹ U.S National Institute of Standards and Technology, Biomolecular Measurement Division, 100 Bureau Drive, Gaithersburg, MD 20899, USA. Electronic address: katherine.gettings@nist.gov.
² The George Washington University, Department of Forensic Sciences, 2100 Foxhall Road NW, Washington, DC 20007, USA. Electronic address: raponte@gwu.edu.
³ U.S National Institute of Standards and Technology, Biomolecular Measurement Division, 100 Bureau Drive, Gaithersburg, MD 20899, USA. Electronic address: peter.vallone@nist.gov.
⁴ U.S. National Institute of Standards and Technology, Special Programs Office, 100 Bureau Drive, Gaithersburg, MD 20899, USA. Electronic address: john.butler@nist.gov.

PMID: 26197946
DOI: 10.1016/j.fsigen.2015.06.005

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.

Keywords: DNA database; Forensic DNA; STR loci; STR nomenclature; Sequence variation; Short tandem repeat.

Published by Elsevier Ireland Ltd.

Publication types

Research Support, U.S. Gov't, Non-P.H.S.
Review

MeSH terms

Alleles*
DNA Fingerprinting / methods
DNA Fingerprinting / trends
Forensic Genetics / methods*
Forensic Genetics / trends
Genetic Variation
Genetics, Population
High-Throughput Nucleotide Sequencing / methods
High-Throughput Nucleotide Sequencing / trends
Humans
Microsatellite Repeats*
Sequence Analysis, DNA / methods
Sequence Analysis, DNA / trends