Kinship analysis: assessment of related vs unrelated based on defined pedigrees

Turrina, Stefania; Ferrian, Melissa; Caratti, Stefano; Cosentino, Emanuela; Leo, Domenico De

doi:10.1007/s00414-015-1290-3

Cited by 12 publications

(4 citation statements)

References 27 publications

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“…Studies suggest that genotyping more than 20 autosomal STR loci improve forensic personal identification, especially in the sibship analyses (Allen et al, 2007;Carboni et al, 2014;Von Wumb-Schwark et al, 2015;Tamura et al, 2015;Turrina et al, 2016), which corresponds to our findings.…”

Section: Resultssupporting

confidence: 87%

Comparison of Two Different Multiplex Systems in Calculating Kinship Among Close Relatives

Beribaka¹,

Hafizović²,

Pilav³

et al. 2017

GenApp

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This study compares the results obtained using two multiplex systems, PowerPlex® 16 System and PowerPlex® Fusion System, to evaluate the probability of a specific kinship relationship between the offspring of three pairs of identical twins, such as full kinship (siblings), first-degree relatives (first cousins) and half-siblings. Genomic DNA was isolated and amplified from buccal swab and selected short tandem repeat (STR) markers were detected. Electropherograms were generated and analyzed for all persons, using two multiplex systems. Paternity testing for every nine offspring of six examined couples was performed and in all cases the probability that the alleged father is the true father, was over 99.9999%. Kinship analyses were performed setting up two different hypotheses and calculating the likelihood ratio (LR) and kinship probability. Determining the degree of kinship between persons who were full siblings, likelihood ratio showed the highest values contrary to other two types of kinship. Kinship analyses between first cousins showed a higher probability that the examined persons are half-siblings, rather than they are first cousins. In most cases, the introduction of additional seven loci included in PowerPlex® Fusion System increased the values of average likelihood ratios. It is recommendable to use over 20 STR loci in complex kinship analyses.

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Section: Resultssupporting

confidence: 87%

Comparison of Two Different Multiplex Systems in Calculating Kinship Among Close Relatives

Beribaka¹,

Hafizović²,

Pilav³

et al. 2017

GenApp

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“…This finding probably is explained by the limited power of exclusion of D10S1248 and D22S1045: PE = 0.439 and 0.2709, respectively [5]. In fact, our results from real cases are complementary to those based on simulations comparing different commercial kits in complex kinship analyses, where it has been observed that the implementation of more STRs allows a strong discrimination between relatives and non-relatives (decreases false positives and false negatives) [6,7].…”

Section: Paternity Index (Pi) By Hid Kitsmentioning

confidence: 63%

Results obtained in five years in a paternity testing laboratory in Mexico

García-Aceves

Cortés

Villalobos

2017

Forensic Science International: Genetics Supplement Series

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Although national and international organizations regularly report information from paternity testing labs in different countries, Latin American countries are scarcely included in these reports. For that reason, the aim of this study was to describe different parameters from 3005 paternity tests analyzed in a Mexican laboratory (www.dnaprofile.com.mx) over a period of five years. Motherless paternity tests were the most frequent (77.27%), followed by cases including the mother (20.70%), whereas the remaining included different reconstruction cases (2.04%). The exclusion rate was 29.58%, into the range reported by the AABB (American Association of Blood Banks). We detected 65 mutations, involving one and two steps (93.8 and 6.2%, respectively). The average mutation rate for the autosomal STR loci was estimated (7.8 × 10 −4 ). Five triallelic patterns and 12 suspected null alleles were detected; however, null alleles were not confirmed by re-amplification, suggesting that actually most of them are mutations. We evaluated the informativity apportioned by Human Identification (HID) kits used for motherless tests in this lab in two ways: (i) when non-paternity was concluded, by the number of mismatches detected (exclusions); and (ii) when the kinship was deduced, by the estimated paternity index (PI) and paternity probability (W). In brief, it was evident that the large majority of motherless paternity tests can be successfully solved with 20 STRs. This report will be a useful reference for the paternity testing activity in Mexico and Latin America.

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“…Despite the high discriminatory power of gold-standard STR markers and the availability of the supplemental use of lineage markers, their usage could be limited in distant and complex relative testing, or only partially informative in resolving cases. 3 4 15 16 17 18 The mutation rates of STRs are known to be relatively high, which could cause difficulties in interpretation and lead to inconclusive results. It is also difficult to identify different relationships, such as differentiating between FSs and HSs.…”

Section: Discussionmentioning

confidence: 99%

Validation of the Utility of the Genetically Shared Regions of Chromosomes (GD-ICS) Measuring Method in Identifying Complicated Genetic Relatedness

Cho,

Shin,

Park

et al. 2024

J Korean Med Sci

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Background Relatives share more genomic regions than unrelated individuals, with closer relatives sharing more regions. This concept, paired with the increased availability of high-throughput single nucleotide polymorphism (SNP) genotyping technologies, has made it feasible to measure the shared chromosomal regions between individuals to assess their level of relation to each other. However, such techniques have remained in the conceptual rather than practical stages in terms of applying measures or indices. Recently, we developed an index called “genetic distance-based index of chromosomal sharing (GD-ICS)” utilizing large-scale SNP data from Korean family samples and demonstrated its potential for practical applications in kinship determination. In the current study, we present validation results from various real cases demonstrating the utility of this method in resolving complex familial relationships where information obtained from traditional short tandem repeats (STRs) or lineage markers is inconclusive. Methods We obtained large-scale SNP data through microarray analysis from Korean individuals involving 13 kinship cases and calculated GD-ICS values using the method described in our previous study. Based on the GD-ICS reference constructed for Korean families, each disputed kinship was evaluated and validated using a combination of traditional STRs and lineage markers. Results The cases comprised those A) that were found to be inconclusive using the traditional approach, B) for which it was difficult to apply traditional testing methods, and C) that were more conclusively resolved using the GD-ICS method. This method has overcome the limitations faced by traditional STRs in kinship testing, particularly in a paternity case with STR mutational events and in confirming distant kinship where the individual of interest is unavailable for testing. It has also been demonstrated to be effective in identifying various relationships without specific presumptions and in confirming a lack of genetic relatedness between individuals. Conclusion This method has been proven effective in identifying familial relationships across diverse complex and practical scenarios. It is not only useful when traditional testing methods fail to provide conclusive results, but it also enhances the resolution of challenging kinship cases, which suggests its applicability in various types of practical casework.

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Kinship analysis: assessment of related vs unrelated based on defined pedigrees

Cited by 12 publications

References 27 publications

Comparison of Two Different Multiplex Systems in Calculating Kinship Among Close Relatives

Comparison of Two Different Multiplex Systems in Calculating Kinship Among Close Relatives

Results obtained in five years in a paternity testing laboratory in Mexico

Validation of the Utility of the Genetically Shared Regions of Chromosomes (GD-ICS) Measuring Method in Identifying Complicated Genetic Relatedness

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