Genetic diversity and forensic application of Y-filer STRs in four major ethnic groups of Pakistan - PubMed (original) (raw)

Genetic diversity and forensic application of Y-filer STRs in four major ethnic groups of Pakistan

Muhammad Salman Ikram et al. BMC Genomics. 2022.

Abstract

17 Y-chromosomal STRs which are part of the Yfiler Amplification Kit were investigated in 493 unrelated Pakistani individuals belonging to the Punjabi, Sindhi, Baloch, and Pathan ethnic groups. We have assessed the forensic parameters and population genetic structure for each group. Among the 493 unrelated individuals from four ethnic groups (128 Baloch, 122 Pathan, 108 Punjabi, and 135 Sindhi), 82 haplotypes were observed with haplotype diversity (HD) of 0.9906 in Baloch, 102 haplotypes with HD value of 0.9957 in Pathans, 80 haplotypes with HD value of 0.9924 in Punjabi, and 105 haplotypes with HD value of 0.9945 in the Sindhi population. The overall gene diversity for Baloch, Pathan, Punjabi, and Sindhi populations was 0.6367, 0.6479, 0.6657, and 0.6112, respectively. The results had shown us that Pakistani populations do not have a unique set of genes but share the genetic affinity with regional (Central Asia and Northern India) populations. The observed low gene diversity (heterozygosity) values may be because of endogamy trends and this observation is equally supported by the results of forensic parameters which are mostly static across 4 combinations (minimal STRs, extended 11 Y-STRs, Powerplex 12 Y System, and Yfiler 17 Y-STRs) of STRs in these four populations.

Keywords: Baloch; Forensic and population genetic; Pathan; Punjabi; Sindhi; Yfiler amplification kit.

© 2022. The Author(s).

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Conflict of interest statement

None.

Figures

Fig. 1

Fig. 1

Heterozygosity scattered plot for four populations

Fig. 2

Fig. 2

Two-dimensional plot from multi-dimensional scaling analysis of R_st_-values based on Yfiler haplotypes for the currently studied four populations with other reference populations from Pakistan

Fig. 3

Fig. 3

Neighbor-joining tree based on the F_st_ values based on Yfiler haplotypes for the currently studied four populations with other reference populations from Pakistan

Fig. 4

Fig. 4

Two-dimensional plot from multi-dimensional scaling analysis of R_st_-values based on Yfiler haplotypes for the currently studied four populations with other regional populations

Fig. 5

Fig. 5

Neighbor-joining tree based on the F_st_ values based on Yfiler haplotypes for the currently studied four populations with other regional populations

Fig. 6

Fig. 6

The median-joining network for four populations based on 14 Y-STRs

Fig. 7

Fig. 7

A stacked histogram with haplogroup composition for these four populations

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