Highlights
- •Sequence information regarding microvariants at four Y-STR loci is reported.
- •Diversity at the palindromic DYF387S1 STR is shaped by non-allelic gene conversion.
- •An excess of diallelic patterns at RM Y-STRs from cell lines was observed.
- •Low intra- and high inter-population diversity values are observed.
- •Ten additional Y-STRs in Yfiler Plus vs. Yfiler resulted in a 15% DC increase.
Abstract
By using the recently introduced 6-dye Yfiler® Plus multiplex, we analyzed 462 males belonging to 20 ethnic groups from four eastern
African countries (Eritrea, Ethiopia, Djibouti and Kenya). Through a Y-STR sequence
analysis, combined with 62 SNP-based haplogroup information, we were able to classify
observed microvariant alleles at four Y-STR loci as either monophyletic (DYF387S1
and DYS458) or recurrent (DYS449 and DYS627). We found evidence of non-allelic gene
conversion among paralogous STRs of the two-copy locus DYF387S1. Twenty-two diallelic
and triallelic patterns observed at 13 different loci were found to be significantly
over-represented (p < 10−6) among profiles obtained from cell lines compared to those from blood and saliva.
Most of the diallelic/triallelic patterns from cell lines involved recurrent mutations
at rapidly mutating loci (RM Y-STRs) included in the multiplex (p < 10−2). At haplotype level, intra-population diversity indices were found to be among the
lowest so far reported for the Yfiler® Plus, while statistically significant differences among countries and ethnic groups
were detected when considering haplotype frequencies alone (FST) or by using molecular distances among haplotypes (ΦST). The strong population subdivision observed is probably the consequence of the patrilineal
social organization of most eastern African ethnic groups, and suggests caution in
the use of country-based haplotype frequency distributions for forensic inferences
in this region.
Graphical abstract
Graphical Abstract
Keywords
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Article info
Publication history
Published online: December 30, 2016
Accepted:
December 29,
2016
Received in revised form:
December 19,
2016
Received:
September 6,
2016
Identification
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