Application of massively parallel sequencing (MPS) in paternity testing – case report

Grażyna Kostrzewa; Magdalena Konarzewska; Witold Pepiński

doi:10.5114/amsik.2017.70338

eISSN: 1689-1716
ISSN: 0324-8267

Archiwum Medycyny Sądowej i Kryminologii/Archives of Forensic Medicine and Criminology

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1/2017
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abstract:

Case report

Application of massively parallel sequencing (MPS) in paternity testing – case report

Grażyna Kostrzewa

¹

,

Magdalena Konarzewska

¹

,

Witold Pepiński

²

Department of Forensic Medicine, Medical University of Warsaw, Poland
Department of Forensic Medicine, Medical University of Bialystok, Poland

Arch Med Sąd Kryminol 201 7; 67 (1): 61-67

DOI: https://doi.org/10.5114/amsik.2017.70338

Online publish date: 2017/10/02

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Aim of the study: We present the application of massively parallel sequencing (MPS) to extend the scope of analysis in a disputed paternity case.

Material and methods: A standard paternity test comprising 16 autosomal STRs was performed by capillary electrophoresis (CE) using 3130xl Genetic Analyzer. Additionally, MPS was performed with ForenSeq DNA Signature Prep Kit and Illumina MiSeq FGx™ Forensic Genomics System. Paternity index (PI) was calculated using DNAStat v.2.1 software.

Results: CE revealed two mismatches, at D21S11 and VWA, between the putative father and the child. Based on MPS results, the mismatches were analyzed and a nonconsensus sequence of allele 14 at the VWA locus in the mother – child pair was identified. Different sequence variants were also detected in 16-16 homozygote alleles at the D3S1358 locus in the child.

Conclusions: MPS helped to formulate a definite conclusion regarding the paternity of the defendant and provided full information on intra-allelic polymorphism.

keywords:

Application of massively parallel sequencing (MPS) in paternity testing – case report

Grażyna Kostrzewa 1 , Magdalena Konarzewska 1 , Witold Pepiński 2

DNA, paternity testing, MiSeq FGx™, intra-allelic polymorphism

Grażyna Kostrzewa

¹

,

Magdalena Konarzewska

¹

,

Witold Pepiński

²

DNA, paternity testing, MiSeq FGx^™, intra-allelic polymorphism