Molecular Diagnostic Applications in Forensic Science

Bruce Budowle, John V. Planz, Rowan Campbell, Arthur J. Eisenberg

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

This chapter describes the general characteristics of short tandem repeats on Y chromosomes (Y-STRs) in forensic analyses, analytic procedures for typing Y-STR loci, and general interpretation issues. Y-chromosome DNA resides in the nucleus, but its markers differ in some respects from the autosomal loci. Most of the DNA in the Y-chromosome is non-recombinant, with only the most distal portions of the chromosome able to recombine with the X-chromosome. Barring mutation, the Y-linked DNA types are identical for all paternal relatives, including male siblings. This characteristic is helpful in human identity cases, such as those involving the analysis of the remains of a missing person. In such cases, known paternal relatives can provide reference samples for direct comparison to the unknown Y-linked DNA types. A set of markers residing on the Y-chromosome enable the analysis of samples, such as mixtures composed of minute amounts of male DNA amid a large background of female DNA. Issues to be considered when implementing DNA typing methods for Y-STRs are exemplified and core sets of Y-STR loci are defined. Molecular diagnostic applications in forensic science require the methods to be validated and developed for placing statistical weight on an evidence profile that matches a reference sample profile, quality assurance measures to be implemented, and interpretation guidelines instituted.

Original languageEnglish
Title of host publicationMolecular Diagnostics
Subtitle of host publicationSecond Edition
PublisherElsevier Ltd
Pages393-406
Number of pages14
ISBN (Print)9780123745378
DOIs
StatePublished - 1 Sep 2009

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    Budowle, B., Planz, J. V., Campbell, R., & Eisenberg, A. J. (2009). Molecular Diagnostic Applications in Forensic Science. In Molecular Diagnostics: Second Edition (pp. 393-406). Elsevier Ltd. https://doi.org/10.1016/B978-0-12-374537-8.00026-2