engleski

The analysis of autosomal STR allelic frequency in the population of eastern Croatia

The goal: To investigate microdifferentiation of Croatian population by studying 15 short tandem repeat (STR) loci in 101 adult, unrelated volunteers from 5 eastern Croatian counties. Materials and methods: Peripheral blood was sampled on FTA cards, and genomic DNA extracted with the use of Chelex 100 method. AmpFlSTR® Identifiler PlusTM kit and ProFlex 3x32 well PCR system were used for multiplex amplification of 15 STR loci including D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818, and FGA. Allelic variants were identified by electrophoresis on an ABI 310 Genetic Analyser and GeneMapper ID v3.2.1 was used for raw data analysis. Allelic frequencies were obtained by direct counting. Departures from Hardy-Weinberg equilibrium (HWE, 1000 permutations) and the exact test of population differentiation were estimated with the STRAF 1.0.5 and Arlequin v3.5.2.2 software. Results: In total, 129 STR alleles were detected, 8 of which qualifying as rare variants (frequency<0.005). The highest allelic diversity was observed within the FGA (n=13) locus, whereas lowest numbers were found in TPOX (n=5). No deviations from HWE were seen in any of the tested loci (Bonferroni corrected P<0.0033). The highest values of polymorphism information content (PIC=0.863), power of discrimination (PD=0.965) and power of exclusion (PE=0.757) were measured at the D18S51 locus. The significant differences between general and eastern Croatian populations were however, noticed at the CSF1PO (P=6x10-5) and D21S11 (P<10-5) loci. Conclusion: In line with previous reports, D18S51 was confirmed as the most discriminating STR locus in Croatian population. The significant population differences observed at CSF1PO and D21S11 loci in eastern Croatia population warrant, however, validation in larger cohorts and comparison to neighbouring populations.

eastern Croatia, population study, autosomal STR

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