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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References
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
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
Pereira R, Phillips C, Alves C, Amorim A, Carracedo Á, Gusmão L (2009) Insertion/deletion polymorphisms: a multiplex assay and forensic applications. Forensic Sci Int Genet Suppl Ser 2:513–515. doi:10.1016/j.fsigss.2009.09.005
Børsting C, Morling N (2011) Mutations and/or close relatives? Six case work examples where 49 autosomal SNPs were used as supplementary markers. Forensic Sci Int Genet 5:236–241. doi:10.1016/j.fsigen.2010.02.007
Nachman MW, Crowell SL (2000) Estimate of the mutation rate per nucleotide in humans. Genetics 156:297–304
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
Bobillo C, Marino M, Sala A, Gusmão L, Corach D (2008) X-STRs: relevance in complex kinship cases. Forensic Sci Int Genet Suppl Ser 1:496–498. doi:10.1016/j.fsigss.2007.10.080
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
Gomes C, Magalhães M, Amorim A, Alves C, Pinto N, Gusmão L (2011) How useful is your X in discerning pedigrees? Forensic Sci Int Genet Suppl Ser 3:161–162. doi:10.1016/j.fsigss.2011.08.081
Pinto N, Gusmão L, Amorim A (2010) X-chromosome markers in kinship testing: a generalisation of the IBD approach identifying situations where their contribution is crucial. Forensic Sci Int Genet 5:27–32. doi:10.1016/j.fsigen.2010.01.011
Szibor R, Krawczak M, Hering S, Edelmann J, Kuhlisch E, Krause D (2003) Use of X-linked markers for forensic purposes. Int J Legal Med 117:67–74. doi:10.1007/s00414-002-0352-5
Szibor R (2007) X-chromosomal markers: past, present and future. Forensic Sci Int Genet 1:93–99. doi:10.1016/j.fsigen.2007.03.003
Pereira R, Phillips C, Alves C, Amorim A, Carracedo Á, Gusmão L (2009) A new multiplex for human identification using insertion/deletion polymorphisms. Electrophoresis 30:3682–3690. doi:10.1002/elps.200900274
Egeland T, Mostad P, Mevåg B, Stenersen M (2000) Beyond traditional paternity and identification cases. Selecting the most probable pedigree. Forensic Sci Int 110:47–59. doi:10.1016/S0379-0738(00)00147-X
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
American Association of Blood Banks (AABB) (2008) Annual report summary for testing in 2008. Available at http://www.aabb.org/sa/facilities/Documents/ rtannrpt08.pdf. Accessed in January 26, 2011
Jobling MA, Hurles M, Tyler-Smith C (2004) Human evolutionary genetics: origins, peoples & disease. Garland Sci. doi:10.1007/s00439-004-1138-2
Alves C, Amorim A, Gusmão L, Pereira L (2001) VWA STR genotyping: further inconsistencies between Perkin-Elmer and Promega kits. Int J Legal Med 115:97–99. doi:10.1007/s004140100215
Cotton A, Allsop RF, Guest L, Frazier R, Koumi P, Callow P, Seager A, Sparkes RL (2000) Validation of the AMPFlSTR SGM plus system for use in forensic casework. Forensic Sci Int 112:151–161. doi:10.1016/S0379-0738(00)00182-1
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
Edelmann J, Lutz-Bonengel S, Naue J, Hering S (2011) X-chromosomal haplotype frequencies of four linkage groups using the Investigator Argus X-12 Kit. Forensic Sci Int Genet. doi:10.1016/j.fsigen.2011.01.001
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
Nothnagel M, Schmidtke J, Krawczak M (2010) Potentials and limits of pairwise kinship analysis using autosomal short tandem repeat loci. Int J Legal Med 124:205–215. doi:10.1007/s00414-009-0413-0
Acknowledgments
IPATIMUP is an Associate Laboratory of the Portuguese Ministry of Education and Science and is partially supported by FCT, the Portuguese Foundation for Science and Technology. NP is supported by a PhD grant SFRH/BD/37261/2007 from FCT. LG is supported by an Invited Professor grant from CAPES/Brazil.
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Cláudia Gomes and Marta Magalhães contributed equally to this manuscript.
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Gomes, C., Magalhães, M., Alves, C. et al. Comparative evaluation of alternative batteries of genetic markers to complement autosomal STRs in kinship investigations: autosomal indels vs. X-chromosome STRs. Int J Legal Med 126, 917–921 (2012). https://doi.org/10.1007/s00414-012-0768-5
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DOI: https://doi.org/10.1007/s00414-012-0768-5