Using STR, MiniSTR and SNP markers to solve complex cases of kinship analysis

Ibarra, A.; Martinez, M.; Freire-Aradas, Ana; Fondevila, M.; Carracedo, Ángel; Porras, L.; Gusmão, Leonor

doi:10.1016/j.fsigss.2013.10.046

Cited by 4 publications

(3 citation statements)

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“…Moreover, the combined STR/ SNP increased PI results, leading to a strongly supported hypothesis of paternity and an accurate conclusion. Similar results when applied to complex casework resolution have been obtained with SNP typing by other authors [6,[13][14][15] -hardly a surprise, since this methodology accomplishes the single-tube-reaction study of a great number of markers. Additionally, these markers show an extremely low mutation rate, and those on the SNPforID 52plex have been selected to cover all chromosomes with an ample distribution across the genome in order to ensure the discovery of recombination-born differences even among members of complex inbred pedigrees [6].…”

Section: Resultssupporting

confidence: 75%

SNP Markers as Additional Information to Resolve Complex Kinship Cases

Pontes

Fondevila

Lareu

et al. 2015

Transfus Med Hemother

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Background: DNA profiling with sets of highly polymorphic autosomal short tandem repeat (STR) markers has been applied in various aspects of human identification in forensic casework for nearly 20 years. However, in some cases of complex kinship investigation, the information provided by the conventionally used STR markers is not enough, often resulting in low likelihood ratio (LR) calculations. In these cases, it becomes necessary to increment the number of loci under analysis to reach adequate LRs. Recently, it has been proposed that single nucleotide polymorphisms (SNPs) could be used as a supportive tool to STR typing, eventually even replacing the methods/markers now employed. Methods: In this work, we describe the results obtained in 7 revised complex paternity cases when applying a battery of STRs, as well as 52 human identification SNPs (SNPforID 52plex identification panel) using a SNaPshot methodology followed by capillary electrophoresis. Results: Our results show that the analysis of SNPs, as complement to STR typing in forensic casework applications, would at least increase by a factor of 4 total PI values and correspondent Essen-Möllerʼs W value. Conclusions: We demonstrated that SNP genotyping could be a key complement to STR information in challenging casework of disputed paternity, such as close relative individualization or complex pedigrees subject to endogamous relations.

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Section: Resultssupporting

confidence: 75%

SNP Markers as Additional Information to Resolve Complex Kinship Cases

Pontes

Fondevila

Lareu

et al. 2015

Transfus Med Hemother

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“…However, the PI values obtained after the additional information from the diverse sets of SNP markers, used by the different laboratories, in all the analyzed cases (Table I) was very useful. This clearly illustrates that the addition of SNPs can help to reach a higher degree of confidence in the interpretation of many challenging relationship tests that were first processed using extended STR and, in some cases MiniSTR or Y-STR typing [36]. This is particularly important in parentage or identification cases that involve the analysis of complex DNA samples extracted from bones and teeth.…”

Section: Wynikimentioning

confidence: 96%

“…I). Można zatem jednoznacznie stwierdzić, że dodatkowe wykorzystanie SNP może zwiększać poziom ufności przy interpretacji wyników w wielu trudnych przypadkach dotyczących pokrewieństwa, które analizowano początkowo przy użyciu rozszerzonego badania STR lub typowania MiniSTR albo Y-STR [36]. Jest to szczególnie istotne w przypadkach dotyczących rodzicielstwa lub identyfikacji osoby, w których analizowane są kompleksowe próbki DNA pozyskiwanego z kości i zębów.…”

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SNPs and STRs in forensic medicine. A strategy for kinship evaluation

Pontes¹,

Sousa²,

Medeiros³

2017

amsik

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Some emerging technologies are used as strategies for the analyses of single nucleotide polymorphisms (SNPs) that have attracted much interest in recent years, applied to various scientific areas. They have been extensively used as markers to identify genes that underlie complex diseases and also to realize the potential of pharmacogenomics in relation to different drug responses. Additionally, SNPs have been shown to be very useful in forensic genetics resolving all kinds of legal problems, namely crime cases, disaster victim identification and paternity and kinship investigation testing. The low mutation rate of SNPs, makes these markers very suitable for relationship testing. In the great majority of the cases, analyses with the widely used sets of STR markers provide powerful statistical evidence but some of them remain with ambiguous results. Those include cases with complex pedigrees or cases with some problems, like mutations, that are inherent to the use of STRs. At this time several forensic laboratories are using SNPs especially to complement the study of STRs in some of their casework cases. This paper intends to analyze some of our casework examples and to providea data update on the joint use of STRs and autosomal SNPs in the evaluation and kinship calculation, one of the strategies currently used for this purpose, namely reviewing and comparing results published by various working groups.

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Relationship Testing

Butler

2015

Advanced Topics in Forensic DNA Typing: Interpretation

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Using STR, MiniSTR and SNP markers to solve complex cases of kinship analysis

Cited by 4 publications

References 4 publications

SNP Markers as Additional Information to Resolve Complex Kinship Cases

SNP Markers as Additional Information to Resolve Complex Kinship Cases

SNPs and STRs in forensic medicine. A strategy for kinship evaluation

Relationship Testing

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