Document Details
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Document Type |
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Article In Journal |
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Document Title |
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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 |
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Document Language |
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English |
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Abstract |
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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. |
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ISSN |
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1872-4973 |
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Journal Name |
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Forensic Science International: Genetics |
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Volume |
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25 |
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Issue Number |
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1 |
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Publishing Year |
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1437 AH
2016 AD |
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Article Type |
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Article |
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Added Date |
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Tuesday, July 18, 2017 |
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Researchers
| Nicole M. Novroski | Novroski, Nicole M. | Researcher | Doctorate | |
| Jonathan L. King | King, Jonathan L. | Researcher | Doctorate | |
| Jennifer D. Churchill | Churchill, Jennifer D. | Researcher | Doctorate | |
| Lay Hong Seah | Seah, Lay Hong | Researcher | Doctorate | |
| Bruce Budowle | Budowle, Bruce | Researcher | Doctorate | |
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