Population genetic analysis of Yfiler^® Plus haplotype data for three South Australian populations

Y-chromosome short tandem repeat (Y-STR) analysis is a valuable
method in the arsenal of forensic DNA laboratories. It is especially
useful for the detection of low levels of male DNA in a high background
of female DNA (typically encountered in sexual assault casework) and
identification of patrilineal relationships. The Yfiler® Plus PCR amplification kit is a 27 locus kit which targets the 17 loci present in Yfiler
and 10 additional markers, 7 of which are rapidly mutating (RM Y-STR)
loci [1]. These RM Y-STRs are characterized by mutation frequencies
higher than 1 × 10−2 [2,3] and have been shown to provide differentiation between closely related male relatives, such as father-son
pairs [2,4]. The combination of RM Y-STRs with an increased number
of targeted loci has resulted in high levels of population haplotype diversity being reported for Yfiler Plus [5–11]. To interpret and report the
significance of matching Y-STR profiles in forensic casework, laboratories require access to haplotype databases which reflect the populations in their area. Based on most recent Australian Census data, the
South Australian population is primarily composed of individuals of
European descent (95%), East Asian descent (3%) and Australian
Aboriginal descent (2%) [12]. In this study, we generated Yfiler Plus
haplotypes for a cohort of 1136 South Australian male DNA samples
encompassing these three populations and their respective population
genetic parameters were evaluated.