Molecular Diagnostic Applications in Forensic Science

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

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review


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
Number of pages14
ISBN (Print)9780123745378
StatePublished - Sep 2009


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