eISSN: 1689-1716
ISSN: 0324-8267
Archiwum Medycyny Sądowej i Kryminologii/Archives of Forensic Medicine and Criminology
Bieżący numer Archiwum Artykuły zaakceptowane O czasopiśmie Suplementy Bazy indeksacyjne Prenumerata Kontakt Zasady publikacji prac
SCImago Journal & Country Rank
1/2017
vol. 67
 
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Opis przypadku

Zastosowanie techniki massively parallel sequencing (MPS) w analizie ojcostwa – opis przypadku

Grażyna Kostrzewa, Magdalena Konarzewska, Witold Pepiński

Arch Med Sąd Kryminol 201 7; 67 (1): 61-67
Data publikacji online: 2017/10/02
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Cel pracy: W pracy opisano przykład zastosowania techniki MPS (massively parallel sequencing) w celu poszerzenia zakresu analizy spornego ojcostwa.

Materiał i metody: Przy użyciu analizatora genetycznego 3130xl wykonano standardowy test ojcostwa obejmujący 16 markerów autosomalnych. Dodatkowo przeprowadzono badanie zestawem ForenSeq DNA Signature Prep Kit przy użyciu analizatora Illumina MiSeq FGx™ Forensic Genomics System. Obliczenia indeksu ojcostwa (PI) wykonano, stosując program DNAStat v.2.1.

Wyniki: W badaniu 16 markerów autosomalnych ujawniono obecność dwóch niezgodności (D21S11, VWA) dla pary pozwany – dziecko. Na podstawie wyników MPS przeanalizowano wymienione niezgodności, dla pary matka – dziecko ujawniono sekwencję nonconsensus allela 14 locus VWA, u dziecka w locus D3S1358 stwierdzono różnice sekwencji alleli homozygoty 16-16.

Wnioski: Analiza MPS pozwoliła na sformułowanie rozstrzygającego wniosku odnośnie do ojcostwa pozwanego oraz uzyskanie pełnej informacji o polimorfizmie wewnątrzallelicznym.

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.
słowa kluczowe:

DNA, analiza ojcostwa, MiSeq FGx, polimorfizm wewnątrzalliczny

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