Introduction

Analysis of the human Y chromosome in forensics has three main applications: male sex identification, male lineage identification and identification of the geographical origin of male lineages. A male individual is identified, based on DNA evidence, by detecting male-specific parts of the Y chromosome in crime scene samples. Male lineage identification (a male lineage is defined as a male individual together with all his paternal male relatives) is performed by typing male-specific Y-chromosomal DNA polymorphisms in the crime scene samples and searching for matching profiles in suspects. The geographical origin or, in other words, genetic ancestry of male lineages is revealed by using Y-chromosomal markers with specific geographical distributions, as determined from reference databases. The value of Y-chromosomal markers for male identification in forensics is underlined by the fact that the vast majority of violent crimes are committed by males and that almost all cases of sexual assault involve males as perpetrators. Consequently, Y-chromosomal markers are increasingly being used by forensic laboratories. This is reflected in the large increase in the number of publications dealing with Y-chromosomal markers in the forensic science literature over recent years (Figure 9.1). A number of milestone discoveries in human genetics made it possible to use human Y-chromosomal markers for forensic applications. In this chapter I will describe the applications of Y-chromosomal markers to modern forensics, together with some of the key discoveries in human molecular and population genetics that have allowed such applications, and finally I will give a brief outlook on the future of Y-chromosomal markers in forensics.

Molecular Forensics. Edited by Ralph Rapley and David Whitehouse Copyright 2007 by John Wiley & Sons, Ltd.

Figure 9.1 Number of publications per year dealing with Y-chromosome markers in five scientific forensic journals as revealed by the PubMed database (http:// www.ncbi.nlm.nih.gov/entrez/query.fcgi?DB=pubmed) and selecting from key word queries: 'Y-chromosome, Y-STR, Y STR and sex': International Journal of Legal Medicine (IJLM) PubMed record since 1991, Forensic Science International (FSI) PubMed since 1978, Journal of Forensic Sciences (JFS) PubMed since 1965, Legal Medicine (LM) PubMed since 1999 and American Journal of Forensic Medicine and Pathology (AJFMP) PubMed since 1980

Figure 9.1 Number of publications per year dealing with Y-chromosome markers in five scientific forensic journals as revealed by the PubMed database (http:// www.ncbi.nlm.nih.gov/entrez/query.fcgi?DB=pubmed) and selecting from key word queries: 'Y-chromosome, Y-STR, Y STR and sex': International Journal of Legal Medicine (IJLM) PubMed record since 1991, Forensic Science International (FSI) PubMed since 1978, Journal of Forensic Sciences (JFS) PubMed since 1965, Legal Medicine (LM) PubMed since 1999 and American Journal of Forensic Medicine and Pathology (AJFMP) PubMed since 1980

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