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

被引:0
作者
Cláudia Gomes
Marta Magalhães
Cíntia Alves
António Amorim
Nádia Pinto
Leonor Gusmão
机构
[1] Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP),Faculty of Sciences
[2] University of Porto,Center of Mathematics
[3] University of Porto,Medical and Human Genetics Laboratory
[4] Federal University of Pará (UFPA),undefined
来源
International Journal of Legal Medicine | 2012年 / 126卷
关键词
Indels; Deficiency cases; X chromosome; Likelihood ratio; Paternity; Maternity; Kinship;
D O I
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学科分类号
摘要
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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页码:917 / 921
页数:4
相关论文
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  • [1] Phillips C(2008)Resolving relationship tests that show ambiguous STR results using autosomal SNPs as supplementary markers Forensic Sci Int Genet 2 198-204
  • [2] Fondevila M(2009)Insertion/deletion polymorphisms: a multiplex assay and forensic applications Forensic Sci Int Genet Suppl Ser 2 513-515
  • [3] García-Magariños M(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
  • [4] Rodriguez A(2000)Estimate of the mutation rate per nucleotide in humans Genetics 156 297-304
  • [5] Salas A(2008)X-STRs: relevance in complex kinship cases Forensic Sci Int Genet Suppl Ser 1 496-498
  • [6] Carracedo A(2008)Application of the Mentype Argus X-8 kit to forensic casework Probl Forensic Sci 73 53-64
  • [7] Lareu MV(2011)How useful is your X in discerning pedigrees? Forensic Sci Int Genet Suppl Ser 3 161-162
  • [8] Pereira R(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
  • [9] Phillips C(2003)Use of X-linked markers for forensic purposes Int J Legal Med 117 67-74
  • [10] Alves C(2007)X-chromosomal markers: past, present and future Forensic Sci Int Genet 1 93-99