Assessing Paternities with Inconclusive STR Results: The Suitability of Bi-Allelic Markers

• NCJ Number: 241094
• Journal: Forensic Science International: Genetics Volume: 7 Issue: 1 Dated: January 2013 Pages: 16-21
• Author(s): Nadia Pinto; Marta Magalhaes; Eduardo Conde-Sousa; Claudia Gomes; Rui Pereira; Cintia Alves; Leonor Gusmao; Antonio Amorim
• Date Published: January 2013
• Length: 6 pages
• Publication Format: Article
• Publication Type: Report (Study/Research)
• Language: English
• Country: United States of America

Annotation

Data from this study show that, for the number of markers commonly considered, the results from an extended battery of SNPs or Indels should be interpreted with caution when relatives are possibly involved.

Abstract

In paternity testing the genetic profiles of the individuals are used to compare the relative likelihoods of the alleged father and the child being related as father/offspring against, usually, being unrelated. In the great majority of the cases, analyses with the widely used sets of short tandem repeat markers (STRs) provide powerful statistical evidence favoring one of the alternative hypotheses. Nevertheless, there are situations where the final statistical result is ambiguous, mostly because the alleged father shows incompatible genotypes at a few loci along with a very high paternity index in the remaining systems. In these cases, the possibility that the alleged father is actually a close relative of the real one (son, father or brother) can reasonably be raised. In such cases, when the statistical evidence obtained is considered as insufficient, the common practice is to extend the set of analyzed markers. In this context, many authors have suggested that bi-allelic markers, such as single nucleotide (SNP) or insertion/deletion (Indel) polymorphisms, are markers of choice, as they are incomparably less prone to mutation than STRs. In this work the authors address the soundness of this claim and the consequences of this strategy, analyzing the a priori odds both for (a) expected number of Mendelian incompatibilities, and (b) expected values for the final likelihood ratios. Moreover, 100 real pairs of second degree relatives, typed for 2 sets of markers: 15 STRs plus 38 Indels, were used to simulate paternity testing. The authors data show that, for the number of markers commonly considered, the results from an extended battery of SNPs or Indels should be interpreted with caution when relatives are possibly involved. (Published Abstract)