Polymorphism of 11 non-CODIS STRs in a population sample of Lithuanian minority

[I2a1a]

Article Outline

Appendix A.
Supplementary data

References

Lithuanians in northeastern Poland are an indigenous group residing along the border with the Republic of Lithuania since the extinction of the Yotvingians (Sudovians) around the 13th century. Nowadays, about 20,000 people of the Lithuanian ancestry compose one of the most emancipated, best organized and least assimilated ethnic minority communities in the country, the linguistic factor playing a crucial role in maintaining their regional and national identity.

Buccal swabs were collected from 200 unrelated healthy volunteers. DNA was extracted using the Chelex 100 protocol [1]. A commercially available kit Humantype Chimera (Biotype AG, Germany) was used to co-amplify 12 STR loci: D2S1360, D3S1744, D4S2366, D5S2500, D6S474, D7S1517, D8S1132, D10S2325, D12S391, D18S51, D21S2055, SE33 (ACTBP8) and amelogenin. ABI 310 and reference-sequenced ladders (Applied Biosystems) were used following the manufacturer's instructions. Genotyper v2.5 software was used with macro included in the Humantype Chimera Template file. CODIS locus D18S51 was excluded from the analysis. Possible divergence from Hardy–Weinberg equilibrium (HWE) and linkage disequilibrium were tested using the GDA software v1.2 [2]. The biostatistical parameters were calculated using PowerStats v1.2 spreadsheet [3]. Comparison of allele frequency distributions was performed by means of R ? C contingency test (G. Carmody, Ottawa, Canada). The level of significance was 0.05 for all statistical tests (two-sided probability).

The genotype distributions conformed with HWE for all analyzed loci (0.0998 < P < 0.9998). A pairwise comparison using the exact test disequilibrium analysis yielded no indication of allelic dependence (0.0960 < P < 0.9330). The combined MP and MEC for all 11 loci are 6.41 ? 10?16 and 0.999999, respectively. No statistically significant differences in allele distributions were found using R ? C contingency test between the studied population and population samples of autochthonous Poles (0.0548 < P < 0.9330) [4] and [5] and Germans (0.1480 < P < 0.8690) [6], [7], [8] and [9], except D3S1744 (P = 0.0000 ± 0.0000) [8] and D2S1360 (P = 0.0030 ± 0.0017) [10]. Similar allele distributions were also found between the studied population and populations of Austria (P = 0.7050 ± 0.0144) [11], Madeira (Portugal) (P = 0.5680 ± 0.0157) [12], Maghreb (North Africa) (P = 0.9480 ± 0.0070) [13], Egypt (P = 0.56800 ± 0.0157), Yemen (P = 0.3440 ± 0.0150) [11] for D12S391, and a population of Italy for D8S1132 (0.7320 ± 0.0140) and D10S2325 (P = 0.16020 ± 0.0117) [14]. Statistically significant interpopulation differences were seen for D12S391 when populations of Andalusia (Spain) (P = 0.0300 ± 0.0081) [13] and Italy (P = 0.0080 ± 0.0010) [11] were compared and for D7S1517 (P = 0.0000 ± 0.0000) and D10S2325 (P = 0.0040 ± 0.0020) when a population of southeastern China was compared [15].