Document Details

Document Type : Article In Journal 
Document Title :
Characterization of genetic sequence variation of 58 STR loci in four major population groups
Characterization of genetic sequence variation of 58 STR loci in four major population groups
Document Language : English 
Abstract : Massively parallel sequencing (MPS) can identify sequence variation within short tandem repeat (STR) alleles as well as their nominal allele lengths that traditionally have been obtained by capillary electrophoresis. Using the MiSeq FGx Forensic Genomics System (Illumina), STRait Razor, and in-house excel workbooks, genetic variation was characterized 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. Seven hundred and forty six autosomal, 227 X-chromosome, and 324 Y-chromosome STR alleles were identified by sequence compared with 357 autosomal, 107 X-chromosome, and 189 Ychromosome 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. One hundred and seventy six 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 MPS data. 
ISSN : 1872-4973 
Journal Name : Forensic Science International: Genetics 
Volume : 25 
Issue Number : 1 
Publishing Year : 1437 AH
2016 AD
Article Type : Article 
Added Date : Tuesday, July 18, 2017 


Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
Nicole M. NovroskiNovroski, Nicole M.ResearcherDoctorate 
Jonathan L. KingKing, Jonathan L.ResearcherDoctorate 
Jennifer D. ChurchillChurchill, Jennifer D.ResearcherDoctorate 
Lay Hong SeahSeah, Lay HongResearcherDoctorate 
Bruce BudowleBudowle, Bruce ResearcherDoctorate 


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