Molecular Biology Reports

, Volume 39, Issue 7, pp 7727–7741

Croatian national reference Y-STR haplotype database

  • Gordan Mršić
  • Branka Gršković
  • Andro Vrdoljak
  • Maja Popović
  • Ivica Valpotić
  • Šimun Anđelinović
  • Vlastimil Stenzl
  • Edvard Ehler
  • Ludvik Urban
  • Gordana Lacković
  • Peter Underhill
  • Dragan Primorac
Article

DOI: 10.1007/s11033-012-1610-3

Cite this article as:
Mršić, G., Gršković, B., Vrdoljak, A. et al. Mol Biol Rep (2012) 39: 7727. doi:10.1007/s11033-012-1610-3

Abstract

A reference Y-chromosome short tandem repeat (STR) haplotype database is needed for Y-STR match interpretation as well as for national and regional characterization of populations. The aim of this study was to create a comprehensive Y-STR haplotype database of the Croatian contemporary population and to analyze substructure between the five Croatian regions. We carried out a statistical analysis of the data from previously performed genetic analyses collected during routine forensic work by the Forensic Science Centre “Ivan Vučetić”. A total of 1,100 unrelated men from eastern, western, northern, southern and central Croatia were selected for the purpose of this study. Y-STRs were typed using the AmpFISTR Yfiler PCR amplification kit. Analysis of molecular variance calculated with the Y chromosome haplotype reference database online analysis tool included 16 population samples with 20,247 haplotypes. A total of 947 haplotypes were recorded, 848 of which were unique (89.5%). Haplotype diversity was 0.998, with the most frequent haplotype found in 9 of 1,100 men (0.82%). Locus diversity varied from 0.266 for DYS392 to 0.868 for DYS385. Discrimination capacity was 86.1%. Our results suggested high level of similarity among regional subpopulations within Croatia, except for mildly different southern Croatia. Relative resemblance was found with Bosnia and Herzegovina and Serbia. Whit Atheys’ Haplogroup Predictor was used to estimate the frequencies of Y-chromosome haplogroups. I2a, R1a, E1b1b and R1b haplogroups were most frequent in all Croatian regions. These results are important in forensics and contribute to the population genetics and genetic background of the contemporary Croatian population.

Keywords

Y-chromosomeShort tandem repeatPopulation geneticsHaplotypesHaplogroupsCroatian population

Supplementary material

11033_2012_1610_MOESM1_ESM.xls (184 kb)
Supplementary Table 1. Y-STR haplotypes in five Croatian regions (XLS 185 kb)
11033_2012_1610_MOESM2_ESM.tif (728 kb)
Figure S1. Median-Joining network of Y-chromosomal E1b1 haplogroup in Croatian population (n = 118). Markedly separated cluster is identified right below. (TIFF 729 kb)
11033_2012_1610_MOESM3_ESM.tif (992 kb)
Figure S2. Median-Joining network of Y-chromosomal I2a haplogroup in Croatian population (n = 416). The MJN graph for haplogroup I2a was the most compact and the majority of haplotypes create cluster. All haplotypes belonged to subhaplogroup I2a (xI2a1). The unique one (“C31”) belonged to subhaplogroup I2a1. This haplotype is situated at the top and is connected with the graph center by the longest join. (TIFF 992 kb)
11033_2012_1610_MOESM4_ESM.tif (514 kb)
Figure S3. Median-Joining network of Y-chromosomal I2b1 haplogroup in Croatian population (n = 14). The haplogroup I2b1 is relatively less saturated, eventhough, two main subhaplogroups are distinguished. (TIFF 514 kb)
11033_2012_1610_MOESM5_ESM.tif (533 kb)
Figure S4. Median-Joining network of Y-chromosomal J haplogroup in Croatian population (n = 81).The MJN graph of J haplogroup consists of separated clusters of J2b (below), J2a1b (three haplotypes in the center), J2a1h (the majority of haplotypes located in the graph center), J2a1b (upper part of the graph) and J1 (eleven haplotypes at the top). (TIFF 533 kb)
11033_2012_1610_MOESM6_ESM.tif (283 kb)
Figure S5. Median-Joining network of Y-chromosomal N haplogroup in Croatian population (n = 7). The MJN graph of N haplogroup consisted of two separated clusters. (TIFF 283 kb)
11033_2012_1610_MOESM7_ESM.tif (711 kb)
Figure S6. Median-Joining network of Y-chromosomal R1a haplogroup in Croatian population (n = 243). The MJN graph of R1a haplogroup showed very abundant cluster in upper part of the graph. (TIFF 711 kb)
11033_2012_1610_MOESM8_ESM.tif (734 kb)
Figure S7. Median-Joining network of Y-chromosomal R1b haplogroup in Croatian population (n = 87). The MJN graph of R1B haplogroup is characterized by typical star structure. (TIFF 735 kb)
11033_2012_1610_MOESM9_ESM.tif (541 kb)
Figure S8. Median-Joining network of Y-chromosomal G2a haplogroup in Croatian population (n = 30). The MJN graph of G2a haplogroup is characterized by several entirely different branches. Remarkably, a lower number of haplotypes from eastern and southern Croatia are present in this graph when compared to previous ones. (TIFF 541 kb)

Copyright information

© Springer Science+Business Media B.V. 2012

Authors and Affiliations

  • Gordan Mršić
    • 1
    • 2
  • Branka Gršković
    • 1
    • 2
  • Andro Vrdoljak
    • 1
    • 2
  • Maja Popović
    • 2
    • 3
  • Ivica Valpotić
    • 2
    • 3
  • Šimun Anđelinović
    • 2
    • 4
  • Vlastimil Stenzl
    • 5
  • Edvard Ehler
    • 6
  • Ludvik Urban
    • 7
  • Gordana Lacković
    • 8
  • Peter Underhill
    • 9
  • Dragan Primorac
    • 10
    • 11
    • 12
    • 13
  1. 1.Forensic Science Centre “Ivan Vučetić”Ministry of InteriorZagrebCroatia
  2. 2.University Center for Forensic SciencesUniversity of SplitSplitCroatia
  3. 3.Department of Biology, Faculty of Veterinary MedicineUniversity of ZagrebZagrebCroatia
  4. 4.Department of Pathology and Forensic MedicineSplit University Hospital and School of MedicineSplitCroatia
  5. 5.Department of Forensic GeneticsInstitute of CriminalisticsPragueCzech Republic
  6. 6.Department of Biology and Environmental Studies, Faculty of EducationCharles University in PraguePragueCzech Republic
  7. 7.Faculty of Mathematics and PhysicsCharles University in PraguePragueCzech Republic
  8. 8.Division of Biology, Faculty of ScienceUniversity of ZagrebZagrebCroatia
  9. 9.Department of GeneticsStanford University, School of MedicinePalo AltoUSA
  10. 10.Medical SchoolUniversity of SplitSplitCroatia
  11. 11.Medical SchoolUniversity of OsijekOsijekCroatia
  12. 12.Eberly College of SciencePenn State UniversityUniversity ParkUSA
  13. 13.University of New HavenNew HavenUSA