Genomics of the human Y chromosome and molecular diagnosis

Abstract

The human Y chromosome carries a few functional genes as against a plethora of non-coding DNA sequences and shows a high degree of geographical and ethnic variations for a range of loci manifested as genetic polymorphisms. Y-chromosome linked sequence tagged sites (STS) and short tandem repeat (STR) marker systems offer infallible tool for gender identification, paternity testing, genome individualization and assessing male fertility status. Population-specific Y haplotypes and Single Nucleotide Polymorphisms (SNPs) are envisaged to be useful in establishing a correlation between diseased phenotypes with genetic polymorphisms. We discuss genomics of the human Y-chromosome and its possible applications in biology, medical and forensic sciences.