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Resolving Relationship Tests That Show Ambiguous STR Results Using Autosomal SNPs Supplementary Markers

NCJ Number
223109
Journal
Forensic Science International: Genetics Volume: 2 Issue: 3 Dated: June 2008 Pages: 198-204
Author(s)
C. Phillips; M. Fondevila; M. Garcia-Magarinos; A. Rodriquez; A. Salas; A. Carracedo; M. V. Lareu
Date Published
June 2008
Length
7 pages
Annotation
This paper reports on the use of autosomal single nucleotide polymorphisms (SNPs) in order to improve the paternity index or resolve ambiguous short tandem repeat (STR) exclusions in eight cases that initially failed to give a clear, unequivocal indication of the claimed family relationship with STRs alone.
Abstract
Each of the eight relationship tests gave some ambiguity in the STR results that was successfully resolved by including SNP analysis. The SNP profiles were generated from a straightforward multiplex assay optimized and validated for forensic identification, where a very low frequency of incompatibilities in normal trios has already been established. These cases show that the addition of 52 SNPs removes the doubt involved in the interpretation of complex relationship tests that use only extended STR typing. The testing found that the combination of adding a large battery of SNPs and using "Familias" to obtain reliable probabilities for each possible relationship created a more secure framework for interpreting results. Applications likely to benefit from SNP analysis include the identification of disaster victims, immigration testing, complex pedigree reconstruction, and the analysis of deficient families. The latter is often the case in attempting to identify missing persons. The paper's descriptions of materials and methods used address the marker sets, statistical analysis, the simulation of testing a first-degree relative of the true father, and the relationship tests examined. 3 tables, 2 figures, and 16 references