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Characterization of Genetic Sequence Variation of 58 STR Loci in Four Major Population Groups

NCJ Number
Forensic Science International-Genetics Volume: 25 Dated: November 2016 Pages: 214-226
Date Published
November 2016
13 pages
This study characterized genetic variation within STR repeat and flanking regions of 27 autosomal, 7 X-chromosome, and 24 Y-chromosome STR markers in 777 unrelated individuals from four population groups, using the MiSeq FGx Forensic Genomics System (Illumina), STRait Razor, and in-house excel workbooks.

A total of 746 autosomal, 227 X-chromosome, and 324 Y-chromosome STR alleles were identified by sequence compared with 357 autosomal, 107 X-chromosome, and 189 Y-chromosome STR alleles that were identified by length. Within the observed sequence variation, 227 autosomal, 156 X-chromosome, and 112 Y-chromosome novel alleles were identified and described. A total of 176 autosomal, 123 X-chromosome, and 93 Y-chromosome sequence variants resided within STR repeat regions, and 86 autosomal, 39 X-chromosome, and 20 Y-chromosome variants were located in STR flanking regions. Three markers, D18S51, DXS10135, and DYS385a-b had 1, 4, and 1 alleles, respectively, which contained both a novel repeat region variant and a flanking sequence variant in the same nucleotide sequence. There were 50 markers that demonstrated a relative increase in diversity with the variant sequence alleles compared with those of traditional nominal length alleles. These population data illustrate the genetic variation that exists in the commonly used STR markers in the selected population samples and provide allele frequencies for statistical calculations related to STR profiling with massively parallel sequencing (MPS) data. (Publisher abstract modified)

Date Published: November 1, 2016