A paternity case with three genetic incompatibilities between father and child due to maternal uniparental disomy 21 and a mutation at the Y chromosome

Lupo, Audrey; Henke, Jürgen; Henke, Lotte; Blank, Cornelia; Ernsting, Anette; Kozlowski, P.; Rouger, Philippe; Huffel, V. Van

doi:10.1016/j.fsigen.2008.09.010

Cited by 28 publications

(12 citation statements)

References 15 publications

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“…Our three case reports underline the demand for an extended STR typing program in difficult investigations as it has been proposed by others [18,21]. The great number of significant differences even between the African populations demonstrates the need for further population studies of other African populations for the five additional STRs.…”

Section: Resultssupporting

confidence: 59%

“…Three exclusions are the minimal requirements in Germany for the exclusion of paternity or maternity [17]. However, a biological father-child relationship with three mutations has already been reported [18] and in our labs three exclusions are in general not sufficient for the exclusion of the alleged parent from parenthood. An analysis with the AmpFlSTR Identifiler® kit confirmed the differences in D7S820 and D16S539 and showed no other potential exclusions in the additional loci D19S433 and D2S1338.…”

Section: Casementioning

confidence: 83%

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The new Powerplex® ESX17 and ESI17 kits in paternity and maternity analyses involving people from Africa—including allele frequencies for three African populations

Poetsch¹,

Ergin²,

Bayer³

et al. 2010

Int J Legal Med

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Paternity and maternity investigations in immigration procedures are frequently done in Germany. Since mostly only one parent and one or more children are investigated, the occurrence of possible mutational events has to be interpreted with great care and the analysis of as many STRs as possible is recommended. The new Powerplex® ESX17 and Powerplex® ESI17 kits from Promega comprising both eleven established STRs and additionally the loci D1S1656, D2S441, D10S1248, D12S391, and D22S1045 (in different order) are potential tools in such paternity or maternity analyses, but only few allele frequency data for the five new loci exist. Here, we provide allele frequencies for the five additional STRs from three different populations from Africa. In addition, we present two maternity cases and one paternity case in which a clear inclusion or exclusion of the alleged parent could only be achieved by the additional application of the new Powerplex® ESX17 kit.

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Section: Resultssupporting

confidence: 59%

Section: Casementioning

confidence: 83%

The new Powerplex® ESX17 and ESI17 kits in paternity and maternity analyses involving people from Africa—including allele frequencies for three African populations

Poetsch¹,

Ergin²,

Bayer³

et al. 2010

Int J Legal Med

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show abstract

“…However, non-exclusion trio paternity cases with 3 genetic incompatibilities are relatively rare. Recently, 1 case of a triple mutation in a paternity case including the STR loci D8S1179, D18S51 and 1 RFLP marker between child and alleged father was reported [18]. Sun et al [19] also found 3 1-step mutations at the autosomal loci D21S11, VWA, and D8S1179.…”

Section: Resultsmentioning

confidence: 99%

“…Sun et al [19] also found 3 1-step mutations at the autosomal loci D21S11, VWA, and D8S1179. In another case, inconsistencies at 2 autosomal loci (D21S11 and Penta D), due to maternal uniparental disomy 21, and 1 mismatch at Y chromosomal locus DYS389II were observed [20], showing the importance for the application of additional methods or markers. In our described paternity investigation, we observed 3 genetic incompatibilities at the loci Penta D, VWA and the Y-specific locus DYS385.…”

Section: Resultsmentioning

confidence: 99%

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

Lindner

Wurmb‐Schwark

Meier

et al. 2014

Transfus Med Hemother

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Background: In kinship testing, investigation of 15 short tandem repeats (STRs) usually provides decisive genetic information for resolving relationship cases. However, in complex deficiency cases, in cases with more than 2 mutations at different STR loci or when close (untested) relatives of the alleged father are suggested to be the biological father of the child, STR typing alone may not be sufficient. In these cases, the application of supplementary markers such as single nucleotide polymorphisms (SNPs) is recommended. Methods: We describe a paternity case with 3 genetic incompatibilities (Penta D, VWA, and DYS385) between the alleged father and the child after analyzing 23 autosomal and 16 Y chromosomal STR loci. The question arose as to whether the alleged father could be excluded and a related person could be the biological father of the child, or whether the observed genetic incompatibilities were mutations. Interestingly, the 2 excluded full brothers of the alleged father possessed identical genetic incompatibilities at locus VWA and DYS385 as the alleged father. Results and Conclusions: Additional performance of a 50-plex SNP assay demonstrated that the observed mismatches were indeed mutations and the alleged father was the biological father of the child. The results show the usefulness of SNPs as supplementary markers in relationship testing when STR analyses show ambiguous results.

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“…Foerster et al 2003;Hughes et al 2003;Jones et al 2010). In ecological studies, two mismatches are often viewed as sufficient for the exclusion of the potential father, but even this might not always be adequate as true biological fathers with two mismatches have been reported in humans (Gunn et al 1997;Nutini et al 2003; note that in humans, even the case of a true biological father with three mismatches has recently been published; Mansuet-Lupo et al 2009). Therefore, in fields in which misinterpretation of the data would be fatal-e.g.…”

Section: Introductionmentioning

confidence: 99%

Maximising the power of discrimination is important in microsatellite-based paternity analysis in songbirds

Poetsch¹,

Bähnisch

Ludescher

et al. 2012

J Ornithol

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Even though a considerable number of genetic markers are available for paternity analysis in birds, significant difficulties can arise in the assessment and interpretation of data. Paternity analyses using genetic markers are based on comparing similarities and dissimilarities (mismatches) between candidate fathers and their putative offspring. Complications arise when only a few mismatches are being detected, because any non-shared allele might well be caused by a mutation rather than being indicative of a true exclusion. To deal with such problems, it is essential to apply marker panels with sufficient discriminative power. Studying urban populations of Parus major, we report new combinations of microsatellite markers with extremely high sensitivity. We show that even marker panels with numerically satisfying discrimination power and exclusion probability ([0.99999999 and [0.999, respectively) do not always protect from insecurities. We also show that further maximisation of panel sensitivity by adding more markers can be helpful to resolve the majority of such ambiguous cases. ZusammenfassungMaximierung der Diskriminationsstärke ist wichtig fü r Untersuchungen von Mikrosatelliten-basierten Vaterschaftsanalysen bei Singvögeln Auch wenn eine Vielzahl von genetischen Markern für Vaterschaftsanalysen bei Singvögeln zur Verfügung steht, so können sich doch erhebliche Schwierigkeiten bei der Beurteilung und Interpretation der Daten ergeben. Vaterschaftsanalysen mittels genetischer Marker basieren auf dem Vergleich von Ä hnlichkeiten bzw. Unähnlichkeiten (sog. mismatches) zwischen vermuteten Vätern und ihren vermeintlichen Nachkommen. Komplikationen treten auf, wenn nur wenige Unähnlichkeiten bestehen, weil jedes nicht gemeinsame Allel ebenso durch eine Mutation bestimmt sein kann und nicht zwingend für einen echten Ausschluss sprechen muss. Um mit diesem Problem umzugehen, ist es unverzichtbar, Markerkombinationen mit genügend Diskriminationsstärke anzuwenden. Für eine Stadtpopulation von Kohlmeisen Parus major berichten wir über neue Kombinationen von Mikrosatellitenmarkern mit sehr hoher Sensitivität. Wir können zeigen, dass auch Markerkombinationen mit zahlenmäßig zufrieden stellender Diskriminationsstärke und Ausschlusswahrscheinlichkeit ([0.99999999 bzw. [0.999) nicht immer vor Unsicherheiten bewahren. Wir zeigen auch, dass eine weitere Maximierung der Sensitivität durch Hinzunahme Communicated by M. Wink. Electronic supplementary material The online version of this article (

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A paternity case with three genetic incompatibilities between father and child due to maternal uniparental disomy 21 and a mutation at the Y chromosome

Cited by 28 publications

References 15 publications

The new Powerplex® ESX17 and ESI17 kits in paternity and maternity analyses involving people from Africa—including allele frequencies for three African populations

The new Powerplex® ESX17 and ESI17 kits in paternity and maternity analyses involving people from Africa—including allele frequencies for three African populations

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

Maximising the power of discrimination is important in microsatellite-based paternity analysis in songbirds

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