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Erschienen in: International Journal of Legal Medicine 6/2012

01.11.2012 | Original Article

Comparative evaluation of alternative batteries of genetic markers to complement autosomal STRs in kinship investigations: autosomal indels vs. X-chromosome STRs

verfasst von: Cláudia Gomes, Marta Magalhães, Cíntia Alves, António Amorim, Nádia Pinto, Leonor Gusmão

Erschienen in: International Journal of Legal Medicine | Ausgabe 6/2012

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Abstract

Kinship investigations such as paternity are currently solved using sets of (commercially available) highly polymorphic autosomal short tandem repeats (STRs), which lead to powerful likelihood ratios (LR). Still, some difficult cases arise whenever the kinship is much more remote or if the alternative hypotheses are not correctly formulated due to the lack of information (for e.g. there is an unknown relationship between the alleged and the true fathers). In these situations, beyond the routinely used marker set, laboratories usually enlarge the number and/or the type of markers analysed. Among these, autosomal indels and X-chromosome STRs have gained popularity. The aim of this study was to compare the results obtained after complementing an initial set of autosomal STRs with indels or with X-chromosome-specific STRs in simulated paternity cases where the alleged father is a close relative of the real one. Results show that in paternity cases where a low number of incompatibilities are observed, the best strategy is to increase the number of autosomal STRs under analysis. Nevertheless, if these are not available, our study globally shows that in father–daughter duos, a set of 12 X-STRs is more advantageous than 38 highly diverse autosomal biallelic markers. Additionally, the usefulness of X-STRs was also evaluated in cases where only a close relative of the alleged parent (father or mother) is available for testing. For those situations where these markers have the power to exclude, strong LR values are obtained. In the remaining cases, LRs are usually weak and sometimes the results are more likely under the wrong kinship hypothesis.
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Literatur
1.
Zurück zum Zitat Pinto N, Magalhães M, Conde-Sousa E, Gomes C, Pereira R, Alves C, Gusmão L, Amorim A (2012) Assessing paternities with inconclusive STR results: the suitability of bi-allelic markers. Forensic Sci Int Genet. doi:10.1016/j.fsigen.2012.05.002 Pinto N, Magalhães M, Conde-Sousa E, Gomes C, Pereira R, Alves C, Gusmão L, Amorim A (2012) Assessing paternities with inconclusive STR results: the suitability of bi-allelic markers. Forensic Sci Int Genet. doi:10.​1016/​j.​fsigen.​2012.​05.​002
2.
Zurück zum Zitat Phillips C, Fondevila M, García-Magariños M, Rodriguez A, Salas A, Carracedo A, Lareu MV (2008) Resolving relationship tests that show ambiguous STR results using autosomal SNPs as supplementary markers. Forensic Sci Int Genet 2:198–204. doi:10.1016/j.fsigen.2008.02.002 PubMedCrossRef Phillips C, Fondevila M, García-Magariños M, Rodriguez A, Salas A, Carracedo A, Lareu MV (2008) Resolving relationship tests that show ambiguous STR results using autosomal SNPs as supplementary markers. Forensic Sci Int Genet 2:198–204. doi:10.​1016/​j.​fsigen.​2008.​02.​002 PubMedCrossRef
5.
Zurück zum Zitat Nachman MW, Crowell SL (2000) Estimate of the mutation rate per nucleotide in humans. Genetics 156:297–304PubMed Nachman MW, Crowell SL (2000) Estimate of the mutation rate per nucleotide in humans. Genetics 156:297–304PubMed
6.
Zurück zum Zitat Li L, Ge J, Zhang S, Guo J, Zhao S, Li C, Tang H, Davis C, Budowle B, Hou Y, Liu Y (2012) Maternity exclusion with a very high autosomal STRs kinship index. Int J Legal Med. doi:10.1007/s00414-012-0668-8 Li L, Ge J, Zhang S, Guo J, Zhao S, Li C, Tang H, Davis C, Budowle B, Hou Y, Liu Y (2012) Maternity exclusion with a very high autosomal STRs kinship index. Int J Legal Med. doi:10.​1007/​s00414-012-0668-8
8.
Zurück zum Zitat Branicki W, Wolańska-Nowak P, Parys-Proszek A (2008) Application of the Mentype Argus X-8 kit to forensic casework. Probl Forensic Sci 73:53–64 Branicki W, Wolańska-Nowak P, Parys-Proszek A (2008) Application of the Mentype Argus X-8 kit to forensic casework. Probl Forensic Sci 73:53–64
13.
15.
Zurück zum Zitat Amorim A, Alves C, Gusmão L, Pereira L (2006) Extended Northern Portuguese database on 21 autosomal STRs used in genetic identification. Prog Forensic Genet 11:364–366. doi:10.1016/j.ics.2005.09.026 Amorim A, Alves C, Gusmão L, Pereira L (2006) Extended Northern Portuguese database on 21 autosomal STRs used in genetic identification. Prog Forensic Genet 11:364–366. doi:10.​1016/​j.​ics.​2005.​09.​026
20.
Zurück zum Zitat Leibelt C, Budowle B, Collins P, Daoudi Y, Moretti T, Nunn G, Reeder D, Roby R (2003) Identification of a D8S1179 primer binding site mutation and the validation of a primer designed to recover null alleles. Forensic Sci Int 133:220–227. doi:10.1016/S0379-0738(03)00035-5 PubMedCrossRef Leibelt C, Budowle B, Collins P, Daoudi Y, Moretti T, Nunn G, Reeder D, Roby R (2003) Identification of a D8S1179 primer binding site mutation and the validation of a primer designed to recover null alleles. Forensic Sci Int 133:220–227. doi:10.​1016/​S0379-0738(03)00035-5 PubMedCrossRef
21.
22.
Zurück zum Zitat Magalhães M, Pinto N, Gomes C, Amorim A, Alves C, Gusmão L (2011) When the alleged father is a close relative of the real father: the utility of insertion/deletion polymorphisms. Forensic Sci Int Genet Suppl Ser 3:9–10. doi:10.1016/j.fsigss.2011.08.004 CrossRef Magalhães M, Pinto N, Gomes C, Amorim A, Alves C, Gusmão L (2011) When the alleged father is a close relative of the real father: the utility of insertion/deletion polymorphisms. Forensic Sci Int Genet Suppl Ser 3:9–10. doi:10.​1016/​j.​fsigss.​2011.​08.​004 CrossRef
Metadaten
Titel
Comparative evaluation of alternative batteries of genetic markers to complement autosomal STRs in kinship investigations: autosomal indels vs. X-chromosome STRs
verfasst von
Cláudia Gomes
Marta Magalhães
Cíntia Alves
António Amorim
Nádia Pinto
Leonor Gusmão
Publikationsdatum
01.11.2012
Verlag
Springer-Verlag
Erschienen in
International Journal of Legal Medicine / Ausgabe 6/2012
Print ISSN: 0937-9827
Elektronische ISSN: 1437-1596
DOI
https://doi.org/10.1007/s00414-012-0768-5

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