Croatian national reference Y-STR haplotype database

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.

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Acknowledgments

This study was funded by the Ministry of Interior of Croatia. The authors thank Sunčica Papić, BSc, Marija Valić, BSc and Siniša Merkaš, BSc for technical support. Special thanks to Professor Lutz Roewer and Sascha Willuweit, MSc as well as Assistant Professor Ozren Polašek, MD, PhD for statistical analysis and support in the creation of this manuscript.

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Correspondence to Gordan Mršić.

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Supplementary Table 1. Y-STR haplotypes in five Croatian regions (XLS 185 kb)

E1b1

Figure S1. Median-Joining network of Y-chromosomal haplogroup in Croatian population (n = 118). Markedly separated cluster is identified right below. (TIFF 729 kb)

I2a

Figure S2. Median-Joining network of Y-chromosomal 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)

I2b1

Figure S3. Median-Joining network of Y-chromosomal haplogroup in Croatian population (n = 14). The haplogroup I2b1 is relatively less saturated, eventhough, two main subhaplogroups are distinguished. (TIFF 514 kb)

J

Figure S4. Median-Joining network of Y-chromosomal 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)

N

Figure S5. Median-Joining network of Y-chromosomal haplogroup in Croatian population (n = 7). The MJN graph of N haplogroup consisted of two separated clusters. (TIFF 283 kb)

R1a

Figure S6. Median-Joining network of Y-chromosomal 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)

R1b

Figure S7. Median-Joining network of Y-chromosomal haplogroup in Croatian population (n = 87). The MJN graph of R1B haplogroup is characterized by typical star structure. (TIFF 735 kb)

G2a

Figure S8. Median-Joining network of Y-chromosomal 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)

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Mršić, G., Gršković, B., Vrdoljak, A. et al. Croatian national reference Y-STR haplotype database. Mol Biol Rep 39, 7727–7741 (2012). https://doi.org/10.1007/s11033-012-1610-3

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Keywords

  • Y-chromosome
  • Short tandem repeat
  • Population genetics
  • Haplotypes
  • Haplogroups
  • Croatian population