Insertion-/deletion polymorphisms close to the repeat region of STR loci can cause discordant genotypes with different STR kits

Rolf, Burkhard; Bulander, Nicole; Wiegand, Peter

doi:10.1016/j.fsigen.2011.01.005

Cited by 13 publications

(2 citation statements)

References 10 publications

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“…Discordant results may be produced due to allele dropout and size shifts in amplicons generated from one of the primer sets [94,95].…”

Section: Miniaturization: Problems and Prospectsmentioning

confidence: 99%

Scope of X-Chromosomal MiniSTRs: Current Developments

Israr¹

2014

J Forensic

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The experience of using autosomal short-length amplicon STRs or miniSTRs in profiling of degraded DNA and mass disaster victims is extended into the realm of X-chromosomal (ChrX) STR miniaturization. About half of the total X-STRs are now short-length amplicons and the focus is shifting to using the mini versions of all of them. Joint multiplexing of these loci can be used for solving complex paternity cases and association of mass disaster victims with their families. This technology may herald a new dimension for research in population genetics and evolution. We present an overview of the progress made thus far and the future scope and prospects for X-miniSTRs.

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“…Discordant results may be produced due to allele dropout and size shifts in amplicons generated from one of the primer sets [94,95].…”

Section: Miniaturization: Problems and Prospectsmentioning

confidence: 99%

Scope of X-Chromosomal MiniSTRs: Current Developments

Israr¹

2014

J Forensic

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“…Most of the discrepancies reported to date were caused by a point mutation in a primer biding site of one of the STR kits, resulting in a silent allele (also known as a null allele) and a false homozygote. Insertion or deletion (InDel) polymorphism is another cause of discrepancies, when InDel is inside the amplicon of one STR kit and outside the amplicon of others .…”

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confidence: 99%

D5S818 Typing Discrepancy Between PowerPlex^® Fusion and Other STR Kits Including GlobalFiler^® Caused by a One‐base Deletion in 31 Nucleotides Upstream of the Repeat Region

Fujii

Iwashima

Watahiki

et al. 2016

Journal of Forensic Sciences

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Short tandem repeat (STR) typing is widely used in forensic investigation. When the same DNA sample is analyzed with different STR typing kits, a typing discrepancy is occasionally observed. In this study, we examined the cause of a typing discrepancy in a sample at D5S818 locus. This sample was designated as 10, 12 using Identifiler(®) , Identifiler(®) Plus, GlobalFiler(®) , PowerPlex(®) 16HS, and PowerPlex(®) 18D, but as 9.3, 12 using PowerPlex(®) Fusion. Sequencing results indicated that the shorter allele in the sample had a deletion (U31Tdel) at 31 nucleotides upstream of the repeat region (AGAT)10 . This deletion was located in the binding site of the published D5S818 forward primer in PowerPlex(®) 16 and was only 9 and 11 nucleotides downstream of our estimated 5' end position of D5S818 forward primer in GlobalFiler(®) and PowerPlex(®) 18D, respectively. We also examined the effect of primer length on the heterozygous peak balance in this sample.

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STR Genotypes

Butler

2015

Advanced Topics in Forensic DNA Typing: Interpretation

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Insertion-/deletion polymorphisms close to the repeat region of STR loci can cause discordant genotypes with different STR kits

Cited by 13 publications

References 10 publications

Scope of X-Chromosomal MiniSTRs: Current Developments

Scope of X-Chromosomal MiniSTRs: Current Developments

D5S818 Typing Discrepancy Between PowerPlex^® Fusion and Other STR Kits Including GlobalFiler^® Caused by a One‐base Deletion in 31 Nucleotides Upstream of the Repeat Region

STR Genotypes

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Insertion-/deletion polymorphisms close to the repeat region of STR loci can cause discordant genotypes with different STR kits

Cited by 13 publications

References 10 publications

Scope of X-Chromosomal MiniSTRs: Current Developments

Scope of X-Chromosomal MiniSTRs: Current Developments

D5S818 Typing Discrepancy Between PowerPlex® Fusion and Other STR Kits Including GlobalFiler® Caused by a One‐base Deletion in 31 Nucleotides Upstream of the Repeat Region

STR Genotypes

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D5S818 Typing Discrepancy Between PowerPlex^® Fusion and Other STR Kits Including GlobalFiler^® Caused by a One‐base Deletion in 31 Nucleotides Upstream of the Repeat Region