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Human Genetics

, Volume 136, Issue 5, pp 621–635



The male-specific part of the human Y chromosome is widely used in forensic DNA analysis, particularly in cases where standard autosomal DNA profiling is not informative. A Y-chromosomal gene fragment is applied for inferring the biological sex of a crime scene trace donor. Haplotypes composed of Y-chromosomal short tandem repeat polymorphisms Y-STRs are used to characterise paternal lineages of unknown male trace donors, especially suitable when males and females have contributed to the same trace, such as in sexual assault cases. Y-STR haplotyping applied in crime scene investigation can i exclude male suspects from involvement in crime, ii identify the paternal lineage of male perpetrators, iii highlight multiple male contributors to a trace, and iv provide investigative leads for finding unknown male perpetrators. Y-STR haplotype analysis is employed in paternity disputes of male offspring and other types of paternal kinship testing, including historical cases, as well as in special cases of missing person and disaster victim identification involving men. Y-chromosome polymorphisms are applied for inferring the paternal bio-geographic ancestry of unknown trace donors or missing persons, in cases where autosomal DNA profiling is uninformative. In this overview, all different forensic applications of Y-chromosome DNA are described. To illustrate the necessity of forensic Y-chromosome analysis, the investigation of a prominent murder case is described, which initiated two changes in national forensic DNA legislation both covering Y-chromosome use, and was finally solved via an innovative Y-STR dragnet involving thousands of volunteers after 14 years. Finally, expectations for the future of forensic Y-chromosome DNA analysis are discussed.

This article is dedicated to the 25 years of forensic Y-chromosome research and applications, since the description of the first Y-chromosomal STR marker published in this journal Roewer et al. Hum Genet 1992; 89:389–94, and its immediate use in forensic casework Roewer and Epplen Forensic Sci Int 1992; 53:163–171.

Autor: Manfred Kayser


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