Highlights
- •We created a population database of Northern Han Chinese and compared differences and similarities between all available populations.
- •We compiled the software package, namely StatsX, to facilitate the workflow for analysis of population statistics on X-STR.
- •Sanger sequencing or next generation sequencing was employed to confirm the off-ladder alleles.
Abstract
The X-chromosomal short tandem repeat (X-STR) has the advantage in female traces identification
against male contamination and in complex kinship cases. In this study, a total of
516 Northern Han Chinese were genotyped using the Investigator® Argus X-12 QS Kit and pairwise genetic distances (FST) were measured between Northern Han Chinese and 35 published populations using the
same 12 X-STR loci in four presumed linkage groups (LG). Meanwhile, the StatsX package
was compiled to aid the analysis of population statistics on X-STR. Off-ladder alleles
were investigated by Sanger sequencing or next generation sequencing (NGS). The results
showed that high combined PDM, PDF, MECKrüger, MECKishida, MECDesmarais and MECDesmarais Duo based on allele frequencies were achieved as 0.999999998, >0.999999999, 0.999996425,
0.999999993, 0.999999993 and 0.999998732, respectively, so did they based on haplotype
frequencies. Averaged FST and multidimensional scaling (MDS) plot generally mirrored with the biogeography
distribution of the studied populations and their historical relationships. A total
of 16 unique off-ladder alleles were observed in this experiment, four of which have
not been reported yet. The StatsX package could obtain full concordance with established
software. Overall, the Investigator® Argus X-12 QS Kit may provide high polymorphic information for forensic identification
and kinship analysis in the Northern Han Chinese population, and the StatsX package
can make the workflow smoother for researchers to do population statistical analysis
on X-STR.
Keyword
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Article info
Publication history
Published online: October 24, 2016
Accepted:
October 23,
2016
Received in revised form:
October 3,
2016
Received:
August 2,
2016
Identification
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