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


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.

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  1. 1.

    Berger B, Lindinger A, Niederstatter H, Grubwieser P, Parson W (2005) Y-STR typing of an Austrian population sample using a 17-loci multiplex PCR assay. Int J Legal Med 119:241–246

    PubMed  Article  Google Scholar 

  2. 2.

    Sambrook J, Fritsch EF, Maniatis T (1989) Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, New York

    Google Scholar 

  3. 3.

    DNA IQ™ System—Small sample casework protocol, Promega Company, http://www.promega.com/profiles/

  4. 4.

    Onofri V, Alessandrini F, Turchi C, Pesaresi M, Buscemi L, Tagliabracci A (2006) Development of multiplex PCRs for evolutionary and forensic applications of 37 human Y chromosome SNPs. Forensic Sci Int 157:23–35

    PubMed  Article  CAS  Google Scholar 

  5. 5.

    Alessandrini F, Turchi C, Onofri V, Buscemi L, Pesaresi M, Tagliabracci A (2005) Multiplex PCR development of Y-chromosomal biallelic polymorphisms for forensic application. J Forensic Sci 50(3):519–525

    PubMed  Article  CAS  Google Scholar 

  6. 6.

    Gusmao L, Butler JM, Carracedo A et al (2006) DNA Commission of the International Society for Forensic Genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis. Int J Legal Med 120:191–200

    PubMed  Article  CAS  Google Scholar 

  7. 7.

    Mulero JJ, Budowle B, Butler JM, Gusmao L (2006) Letter to the editor—nomenclature and allele repeat structure update for the Y-STR locus GATA H4. J Forensic Sci 51(3):694

    PubMed  Article  Google Scholar 

  8. 8.

    Schneider S, Roessli D, Excoffier L (2000) Arlequin ver. 2.000: a software for population genetics data analysis. Genetics and Biometry Laboratory, University of Geneva, Switzerland

    Google Scholar 

  9. 9.

    Turrina S, Atzei R, De Leo D (2006) Y-chromosomal STR haplotypes in Northeast Italian population sample using 17plex loci PCR assay. Int J Legal Med 120:56–59

    PubMed  Article  Google Scholar 

  10. 10.

    Kwak KD, Jin HJ, Shin DJ et al (2005) Y-chromosomal STR haplotypes and their applications to forensic and population studies in east Asia. Int J Legal Med 119:195–201

    PubMed  Article  Google Scholar 

  11. 11.

    Roewer L, Croucher PJP, Willuweit S et al (2005) Signature of recent historical events in the European Y-chromosomal STR haplotype distribution. Int J Legal Med 116:279–291

    CAS  Google Scholar 

  12. 12.

    Semino O, Passarino G, Oefner PJ et al (2000) The genetic legacy of Paleolithic Homo sapiens sapiens in extant Europeans: a Y chromosome perspective. Science 290:1155–1159

    PubMed  Article  CAS  Google Scholar 

  13. 13.

    Di Giacomo F, Luca F, Anagnou N et al (2003) Clinal patterns of human Y chromosomal diversity in continental Italy and Greece are dominated by drift and founder effects. Mol Phylogenet Evol 28:387–395

    PubMed  Article  Google Scholar 

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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).

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Corresponding author

Correspondence to Adriano Tagliabracci.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Supplementary Fig. 1

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

Table 1

Y-chromosome haplotypes and corresponding Y-SNP haplogroups in 162 unrelated individuals from the Marches Apennine (Central Italy) (DOC 572 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)

Table 3

Genotyping frequencies and gene diversity (GD) of DYS385 multi-copy locus (DOC 45 kb)

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Onofri, V., Alessandrini, F., Turchi, C. et al. Y-chromosome genetic structure in sub-Apennine populations of Central Italy by SNP and STR analysis . Int J Legal Med 121, 234–237 (2007). https://doi.org/10.1007/s00414-007-0153-y

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