Y chromosome analysis reveals a sharp genetic boundary in the Carpathian region

Nine single nucleotide (SNP) or indel binary polymorphisms were used to det ermine the frequencies and phylogenetic relationships of 12Y chromosomal ha plogroups in 289 males from Romania and the Republic of Moldova. Our data i ndicated a low but not null rate of the homoplasic appearance of the DYZ3 ( -) allelic state. All other markers confirmed the previously proposed phylo geny. Based on the affinities between populations in terms of haplogroup fr equencies, this work identified the geographical region of the Carpathians as a break point in the gene geography of Eastern Central Europe, providing a finer definition of one of the possible sharp genetic changes between We stern and Eastern Europe.