Investigator® Argus X‐12 study on the population of Czech Republic: Comparison of linked and unlinked X‐STRs for kinship analysis

Abstract

DNA samples of 523 unrelated anonymized individuals (307 males and 216 females) born and living in the Czech Republic were genotyped using Investigator® Argus X-12 system in the following loci localized in four linkage groups: DXS10148, DXS10135, DXS8378, DXS7132, DXS10079, DXS10074, DXS10103, HPRTB, DXS10101, DXS10146, DXS10134, DXS742. Haplotype frequencies were calculated for each LG (Linkage Group). The frequency of most common haplotype was 0.016, 0.036, 0.042, and 0.023 for LG1, LG2, LG3, and LG4, respectively. The combined power of discrimination was more than 0.999999999 both for female and male samples. The mean exclusion chance was 0.99999999 (trios) and 0.999999 (duos). Informativity and suitability of Investigator® Argus X-12 for kinship determination was assessed by computing in several female-female duos using LR (Likelihood Ratio) determination for autosomal STR (PowerPlex ESI-17), linked (Investigator® Argus X-12 system), and unlinked (X-STR Decaplex) X-STR kits. Investigator® Argus X-12 proved to be very useful for sibship determination, since its LR values were relatively similar to LR for autosomal STR kit. This work presents the first population data for Investigator® Argus X-12 system in the Czech Republic.

Expanding X-chromosomal forensic haplotype frequencies database: Italian population data of four linkage groups

“…Twelve off-ladder alleles in the linkage groups I, II and IV -all reported so far [2,11,13,15,17] except for allele 26 of DXS10079 locus -were observed and designated according to their sizes (Table 3). A lower amplification efficiency at the DXS10103 locus for most of the sample tested was observed.…”

“…Allele and haplotype frequencies for the 12 X-STRs and for each linkage group (LG), as well as the pairwise genetic distances (Fst) based on haplotype frequencies, were calculated by using the Arlequin software v3.5 [9] between our Italian sample and a set of both neighboring and geographically distant populations. To maximize the effectiveness of the comparisons, only populations typed for all the same X-STR loci implemented in the Argus X-12 system were considered, for a total of 4 European (Germany [2], Denmark [10], Czech Republic [11] and Sweden [12]), 4 African (Egypt [13], Somalia [10], Ivory Coast [14] and Cabo Verde [15]) and 3 Asian (China and Japan [16], Malaysia [17]) populations. Inter-population genetic distances (Fst) between the 12 considered populations for each of the four linkage groups (LG) were integrated and graphically represented by using the R software package DISTATIS [5].…”

Allele and haplotype diversity of new multiplex of 19 ChrX‐STR loci in Han population from Guanzhong region (China)

“…Therefore, a novel multiplex system with 19 X‐STR loci was developed for forensic purpose. Meanwhile, the allele frequency distributions should be evaluated in different populations because the allele frequency distributions of X‐STR loci are variable in different groups .…”

Investigator Argus X-12 study on the population of northern Croatia

“…The presence of pairwise linkage disequilibrium (LD) between loci was tested by the exact test using a Markov chain for male, and by likelihood ratio test using the Expectation-Maximization algorithm for female samples. Pair-wise genetic distances (F ST ) were calculated for inter-population comparison of haplotype frequencies between northern Croatia and Italian (Bini et al ., 2015), western Mediterranean (Ferragut et al ., 2015), Czech (Zidkova et al ., 2014), German (Edelmann et al ., 2012), Hungarian (Horvath et al ., 2012), Swedish (Tillmar, 2012), Danish, Somalian, Greenlandic (Tomas et al ., 2012), Chinese and Japanese populations (Uchigasaki et al ., 2013). Comparison with a population of Central Croatia was based on allele frequencies of DXS10135, DXS8378, DXS7132, DXS10074, HPRTB, DXS10101, DXS10134 and DXS7423 loci (Grskovic et al ., 2013), while comparison with Bosnian-Herzegovinian population was based on DXS8378, DXS7132, HPRTB, and DXS7423 loci (Diegoli et al ., 2011).…”

“…Some parameters were also computed with male haplotype frequencies using supplementary R script (Zidkova et al ., 2014). …”