Forensic Science International: Genetics
Volume 5, Issue 4 , Pages 350-351, August 2011

Population study of fourteen X chromosomal short tandem repeat loci in a population from Bosnia and Herzegovina

  • Toni M. Diegoli

      Affiliations

    • These authors contributed equally to this work.
    • Corresponding Author InformationCorresponding author. Tel.: +1 301 319 1406; fax: +1 301 295 5932.
  • Damir Marjanovic

      Affiliations

    • Institute for Genetic Engineering and Biotechnology, Gajev trg 4, 71000 Sarajevo, Bosnia and Herzegovina
    • Genos doo, Planinska 1, 10000 Zagreb, Croatia

Armed Forces DNA Identification Laboratory, Armed Forces Institute of Pathology, 1413 Research Blvd, Suite 101, Rockville, MD, 20850, USA

Institute for Genetic Engineering and Biotechnology, Gajev trg 4, 71000 Sarajevo, Bosnia and Herzegovina

Armed Forces DNA Identification Laboratory, Armed Forces Institute of Pathology, 1413 Research Blvd, Suite 101, Rockville, MD, 20850, USA

Received 18 December 2009 published online 10 February 2010.

Article Outline

Keywords: STRs, X chromosome, Population data, Bosnia and Herzegovina

 

Dear Editor,

X chromosomal short tandem repeat (STR) loci can be used in combination with autosomal STRs to solve cases of complex kinship. In order to properly apply STR results to forensic cases, population databases must be established to which comparisons can be made and the rarity of profiles determined. Here, a population from Bosnia and Herzegovina was studied to determine the appropriate forensic efficiency parameters with 14 widely used X chromosomal STR loci.

Profiles from a total of 154 (68 female and 86 male) unrelated individuals living in Bosnia and Herzegovina were analyzed as part of this study. After obtaining informed consent, either blood stains or buccal swabs were collected and extracted using the QIAmp DNA Micro Kit (Qiagen GmbH, Hilden, Germany). Multiplex PCR amplification and electrophoretic detection was performed using the original multiplexes as described in [1], and the recommendations of the International Society for Forensic Genetics (ISFG) concerning STR nomenclature were followed [2], [3] (see [1] for detailed discussion). Per the recommendations of Szibor et al. [4], allele designations were achieved through comparison with three control DNAs: 9948 (Applied Biosystems, Foster City, CA, USA and Promega Corporation, Madison, WI, USA), 9947a (Applied Biosystems), and K562 (Promega Corporation). This paper follows the guidelines for publication of population data requested by the journal [5], and the authors understand and accept the conditions requested within.

Allele frequencies and forensic efficiency parameters calculated for the 14 X chromosomal STRs examined are presented in Supplementary Table 1. The chi-square test for independence was used to examine the distribution of allele frequencies in the male and female donors. The resultant p values showed no significant differences (p>0.05) and frequency data was pooled at each locus. Both the software PowerMarker [6] and the Forensic ChrX Research website version 2.0 [7] were used to calculate the appropriate forensic efficiency statistics, and analysis of linkage disequilibrium was performed in Arlequin v3.1 [8]. In total, 110 different alleles were observed across 14 loci, with 4–16 alleles per locus. The highest observed heterozygosity was noted at locus DXS101 (0.8676), which also had the most alleles (16), while the lowest was observed at DXS6789 (0.5882). All markers possessed high forensic efficiency values with the studied population sample, supporting the utility of the multiplexes for forensic purposes.

Two markers (DXS7424 and DXS6789) showed a departure from Hardy–Weinberg equilibrium, indicated by a p value for the exact test that is less than 0.05 (bold values in Supplementary Table 1). The observed deviations could be due to the small population size used to evaluate Hardy–Weinberg equilibrium (68 females). After applying the Bonferroni correction, however, none of the values remained significant.

Analysis of pairwise linkage disequilibrium revealed marginally significant results (p<0.05) in the studied population for seven pairs of markers: GATA172D05–GATA31E08, DXS7132–DXS7423, DXS9902–HPRTB, DXS7130–DXS6803, DXS6789–GATA172D05, DXS8378–GATA172D05, and DXS7424–DXS7130. Only one pair showed a significant p value less than 0.01 (DXS8378–GATA165B12). While it is possible that the p values for these pairing indicate a true linkage, the population tested was relatively small (68 females) and analyses may be skewed by non-random sampling or substructure. For reference, male haplotype data according to the proposed linkage groups [9], [10] are presented in Supplementary Tables 2–4. A count of the number of observed haplotypes was performed for groups 1, 2, and 4 (group 3 is represented by HPRTB alone in these multiplexes). There were 20 unique haplotypes for linkage group 1 (DXS8378 and DXS9902) and 24 for linkage group 4 (GATA31E08 and DXS7423) while every haplotype was unique across linkage group 2. The most common haplotype (DXS8378–10, DXS9902–10) was observed 14 times.

The data from this population was compared with six other populations representing various regions of Europe: Hungary [11] and Latvia [12] (eastern Europe); Italy [13], [14] and Germany [15], [16], [17] (central Europe); and Portugal [18], [19] and Spain [19], [20], [21] (western Europe). The allele frequency distributions of overlapping loci were assessed using the chi-square test and significant differences (p<0.05) were observed for several loci in several populations: DXS9902 and DXS7130 in Germans, HPRTB and DXS7133 in Latvians, and DXS8378 in Northern Portuguese (data not shown). Because of the relatively small sample size studied here, however, further investigation would be necessary to determine if these populations truly differ at these loci. In general, the allelic distribution of these particular X chromosomal STRs in the population from Bosnia and Herzogovina is similar to that in other populations across Europe.

This work represents the first study of a population from Bosnia and Herzegovina using 14 X chromosomal STRs.

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Acknowledgements 

The authors would like to thank Jessica Saunier for bioinformatics assistance and the AFDIL Information Technology department for expeditious computer support. The opinions and assertions contained herein are solely those of the authors and are not to be construed as official or as views of the United States Department of Defense or the United States Department of the Army.

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Appendix A. Supplementary data 

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References 

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PII: S1872-4973(10)00015-3

doi:10.1016/j.fsigen.2010.01.007

Forensic Science International: Genetics
Volume 5, Issue 4 , Pages 350-351, August 2011

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