The Y chromosome in forensic analysis and paternity testing

Abstract

The male specificity of the human Y chromosome makes it potentially useful in forensic studies and paternity testing, and markers are now available which will allow its usefulness to be assessed in practice. However, while it can be used confidently for exclusions, the unusual properties of the Y mean that inclusions will be very difficult to make: haplotypes are confined within lineages, so population sub-structuring is a major problem, and many male relatives of a suspect will share his Y chromosome. Y haplotyping is most likely to find application in special instances, such as deficiency cases in paternity testing and in the analysis of mixtures of male and female DNA, or in combination with autosomal markers.