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

Muhammad Salman Ikram; Tahir Mehmood; Allah Rakha; Sareen Akhtar; Muhammad Imran Mahmood Khan; Wedad Saeed Al-Qahtani; Fatmah Ahmed Safhi; Sibte Hadi; Chuan-Chao Wang; Atif Adnan

doi:10.1186/s12864-022-09028-z

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

BMC Genomics. 2022 Nov 30;23(1):788. doi: 10.1186/s12864-022-09028-z.

Authors

Muhammad Salman Ikram^#^{1

2}, Tahir Mehmood^{3

4}, Allah Rakha⁵, Sareen Akhtar⁶, Muhammad Imran Mahmood Khan⁷, Wedad Saeed Al-Qahtani⁸, Fatmah Ahmed Safhi⁹, Sibte Hadi⁸, Chuan-Chao Wang¹⁰, Atif Adnan^#^{11

12}

Affiliations

¹ Department of Anthropology and Ethnology, Institute of Anthropology, School of Sociology and Anthropology, Xiamen University, Xiamen, China.
² Institute of Chemistry, University of Sargodha, Sargodha, 40100, Punjab, Pakistan.
³ Institute of Chemistry, University of Sargodha, Sargodha, 40100, Punjab, Pakistan. tahir.camb@pu.edu.pk.
⁴ Centre for Applied and Molecular Biology (CAMB), University of the Punjab, Lahore, 53700, Punjab, Pakistan. tahir.camb@pu.edu.pk.
⁵ Department of Forensic Sciences, University of Health Sciences, Lahore, 54600, Pakistan. dnaexpert@me.com.
⁶ Department of Forensic Sciences, University of Health Sciences, Lahore, 54600, Pakistan.
⁷ International Committee of Red Cross, Markaz G 11, Islamabad, Pakistan.
⁸ Department of Forensic Sciences, College of Criminal Justice, Naïf Arab University of Security Sciences, Riyadh, 11452, Kingdom of Saudi Arabia.
⁹ Department of Biology, College of Science, Princess Nourah bint Abdulrahman University, P.O. Box 84428, Riyadh, 11671, Saudi Arabia.
¹⁰ Department of Anthropology and Ethnology, Institute of Anthropology, School of Sociology and Anthropology, Xiamen University, Xiamen, China. wang@xmu.edu.cn.
¹¹ Department of Anthropology and Ethnology, Institute of Anthropology, School of Sociology and Anthropology, Xiamen University, Xiamen, China. mirzaatifadnan@gmail.com.
¹² Department of Forensic Sciences, College of Criminal Justice, Naïf Arab University of Security Sciences, Riyadh, 11452, Kingdom of Saudi Arabia. mirzaatifadnan@gmail.com.

^# Contributed equally.

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.

MeSH terms

Asian People* / genetics
Ethnicity* / genetics
Genetic Variation
Haplotypes
Humans
Pakistan

Grants and funding

PNURSP2022R318/Princess Nourah bint Abdulrahman University Researchers supporting project