Y-STR Haplotype Analysis for Inbred Populations

Since in Cyprus the gene pool is characterized by deep inbreeding and high degree of conservation, we decided to perform Y-STR haplotype analysis for all male patients carrying p.Cys618Arg. The methodology used was similar to the one of a recent paper [23 (link)]. This methodology allows the simultaneous determination of short tandem repeats (STRs) on 23 loci located on the Y-chromosome by the PowerPlex^® Y23 System (Promega). Subsequently, the 23 loci Y-STR haplotypes were input to the online Whit Athey’s Haplogroup Predictor tool [24 ] which generates probabilities for assignment to one of the major Y-DNA haplogroups.