International Journal of Legal Medicine

, Volume 121, Issue 3, pp 234–237 | Cite as

Y-chromosome genetic structure in sub-Apennine populations of Central Italy by SNP and STR analysis

  • Valerio Onofri
  • Federica Alessandrini
  • Chiara Turchi
  • Barbara Fraternale
  • Loredana Buscemi
  • Mauro Pesaresi
  • Adriano TagliabracciEmail author
Short Communication


To define the Y-chromosome genetic structure in Apennine populations, 17 Y-chromosome short tandem repeats (Y-STRs) and 37 Y-single nucleotide polymorphisms (Y-SNPs) were typed in 162 subjects living in the upland area of the Marches (Central Italy). A total number of 155 haplotypes (haplotype diversity was 0.9994) and 14 SNP haplogroups were observed. Testing high-resolution Y-chromosome data sets, e.g. using Yfiler and SNPs, increases the discriminatory capacity in individual identification for forensic purposes. It is also useful in autochthonous population and micro-population studies to highlight the most informative loci for evolutionary aims.


Y-chromosome Short tandem repeats Single nucleotide polymorphisms Population data Italy 



Special thanks go to Dr. M. Piani and to all volunteers. This study was supported by a grant from the Ministero per l’Istruzione, l’Università e la Ricerca (MIUR grant no. 2005064329_002).

Supplementary material

414_2007_153_MOESM1_ESM.doc (560 kb)
Table 1 Y-chromosome haplotypes and corresponding Y-SNP haplogroups in 162 unrelated individuals from the Marches Apennine (Central Italy) (DOC 572 kb)
414_2007_153_MOESM2_ESM.doc (128 kb)
Table 2 Relative allele frequencies and gene diversities (GD) of Y-STR markers in the Marches sample (the most frequent allele is in bold type). Notes refer to alleles observed as unique in the 5 most frequent regrouping haplogroups (E3b, I, J2, G, R1) (DOC 131 kb)
414_2007_153_MOESM3_ESM.doc (44 kb)
Table 3 Genotyping frequencies and gene diversity (GD) of DYS385 multi-copy locus (DOC 45 kb)
414_2007_153_Fig1_ESM.gif (106 kb)
Supplementary Fig. 1

Map of the Marches region (Central Italy) showing the 19 sampled locations (GIF 108 kb)


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Copyright information

© Springer-Verlag 2007

Authors and Affiliations

  • Valerio Onofri
    • 1
  • Federica Alessandrini
    • 1
  • Chiara Turchi
    • 1
  • Barbara Fraternale
    • 1
  • Loredana Buscemi
    • 1
  • Mauro Pesaresi
    • 1
  • Adriano Tagliabracci
    • 1
    Email author
  1. 1.Institute of Legal MedicineUniversità Politecnica delle MarcheAnconaItaly

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