The analysis of Y chromosome short tandem repeat (Y-STR) haplotypes provides important
information that can be used for investigative purposes and in population studies.
The Yfiler(®) Plus PCR Amplification kit (Yfiler(®) Plus, Thermo Fisher Scientific,
Waltham, MA, USA) allows the multiplex amplification of 27 Y-STRs, including 7 rapidly
mutating markers (RM Y-STRs). In this study, 203 unrelated males from Italy, which
were subdivided into 4 different geographical groups (North, Center, South and Sardinia)
were analyzed. Several intra-population diversity indexes were computed and compared
to those obtained using only loci either from the minimal haplotype or the 17-plex
(Yfiler(®), Thermo Fisher Scientific, Waltham, MA, USA). In addition, inter-population
diversity analysis (RST) among the four Italian samples was performed. The same analysis
was also used to compare the Italian sub-sets to other European populations where
the Yfiler(®) Plus haplotype frequency data were available. The Sardinians were significantly
differentiated from the other three Italian groups, thus requiring a specific sub-national
Y-STR haplotype database. The Yfiler(®) Plus kit showed a high power of discrimination
which is useful for criminal investigations, principally due to the inclusion of RM
Y-STRs.