Usefulness of SNPs as Supplementary Markers in a Paternity Case with 3 Genetic Incompatibilities at Autosomal and Y Chromosomal Loci

Lindner, Iris; Wurmb‐Schwark, Nicole von; Meier, Patrick; Fimmers, Rolf; Büttner, Andreas

doi:10.1159/000357989

Cited by 13 publications

(15 citation statements)

References 27 publications

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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: 74%

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: 74%

SNP Markers as Additional Information to Resolve Complex Kinship Cases

Pontes

Fondevila

Lareu

et al. 2015

Transfus Med Hemother

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“…In DNA paternity testing, rare cases can occur in which there is an inconsistency in one or two loci between the child and the alleged father. These mutations occur during the process of meiosis when the cells are transferred from the father to the offspring [18][19][20]. In DNA paternity testing two situations are known: single step mutations and double step mutations.…”

Section: Discussionmentioning

confidence: 99%

A Single Step Mutation at D3S1358 Locus in a DNA Paternity Testing with 2 Alleged Fathers

Dumache¹,

Puiu²,

Pusztai³

et al. 2018

Clin. Lab.

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Background: Genetic information is used very frequently in human identification in civil or judicial cases. Establishing the kinship relationship between a child and his biological father involves many ethical facts. We describe a DNA paternity case with two alleged fathers and an inconsistency between alleged father-2 and the child at D3S1358 locus. Methods: As biological samples we used saliva collected from inside the cheek of each person using buccal swabs (Copan, Italy). We collected the biological samples from each of person after each person gave the consent. In order to find the concentration of salivary DNA, the DNA samples were quantified by 7500 ABI Real-time PCR using the Quantifiler Human DNA kit (Applied Biosystems, USA). The next step was the amplification of the Salivary DNA samples by polymerase chain reaction (PCR). It was performed on a ProFlex PCR System (Applied Biosystems, USA) using the multiplex STR markers from the AmpFlSTR ® Identifiler Plus Amplification Kit (Applied Biosystems, USA). After amplification, the PCR products were run on capillary electrophoresis on an ABI 3500 Genetic Analyzer (Applied Biosystems, USA). Results: AF-1 was excluded as biological father. The DNA profiles of AF-2 and the child had one mismatch at D3S1358 locus. Further, we amplified the Y-STR markers to confirm the mutation, obtaining a perfect match between the 2 persons. Conclusions: In paternity testing, where one or two inconsistencies are present between the child and the alleged father on autosomal STR markers, the use of haploid markers X-STR or Y-STRs is needed for the confirmation or exclusion of paternity.

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“…W przypadkach, w których uzyskane wyniki odznaczają się niewystarczającą mocą statystyczną, jednym z popularnych rozwiązań jest rozszerzenie zestawu analizowanych markerów [16][17][18]. Inną opcją jest zastosowanie markerów liniowych, jednak nie zawsze metoda ta pozwala uzyskać rozstrzygający wynik [19]. W niektórych analizach przy ustalaniu ojcostwa spośród krewnych można też wykorzystywać szybko mutujące Y-STR [20].…”

Section: Introductionunclassified

“…In all cases, when the obtained statistical evidence is considered not sufficient, one common practice is to extend the set of analyzed markers [16][17][18]. Lineage markers are also an option, but sometimes are also not sufficient to reach to a concluding result [19]. In some cases, when applied, rapidly mutating Y-STRs could be used to resolve paternity relatives [20].…”

Section: Introductionmentioning

confidence: 99%

“…W ramach kilku zespołów badawczych opracowano szereg oznaczeń typu multipleks na bazie autosomalnych SNP, przeznaczonych między innymi do analizy pochodzenia przodków [8], identyfikacji [22] oraz badań fenotypowych [23]. Na przykład w konsorcjum SNPforID (www.snpforid.org) powstała metoda typowania SNP do identyfikacji człowieka, która umożliwia amplifikację 52 SNP z minimalnych ilości genomowego DNA [13][14][15][16][17][18][19][20][21][22][23][24]. Wszystkie loci SNP amplifikowano w ramach jednej reakcji PCR, a SNP analizowano przy wykorzystaniu dwóch reakcji wydłużania łańcucha o jedną zasadę (single base extension -SBE) oraz elektroforezy kapilarnej.…”

Section: Introductionunclassified

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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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Usefulness of SNPs as Supplementary Markers in a Paternity Case with 3 Genetic Incompatibilities at Autosomal and Y Chromosomal Loci

Cited by 13 publications

References 27 publications

SNP Markers as Additional Information to Resolve Complex Kinship Cases

SNP Markers as Additional Information to Resolve Complex Kinship Cases

A Single Step Mutation at D3S1358 Locus in a DNA Paternity Testing with 2 Alleged Fathers

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

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