Forensic application and genetic diversity of 21 autosomal STR loci in five major population groups of Pakistan
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Forensic application and genetic diversity of 21 autosomal STR loci in five major population groups of Pakistan Muhammad Adnan Shan 1,2
&
Claus Børsting 1
&
Niels Morling 1
Received: 12 May 2020 / Accepted: 3 August 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract Objectives Investigation of genetic diversity of the 21 autosomal STR loci included in the GlobalFilerTM PCR Amplification Kit in 529 Pakistani individuals belonging to the Punjabi, Pashtun, Sindhi, Saraiki, and Baloch ethnic groups. Population genetic parameters and forensic informative metrics for each group were evaluated. Results SE33 showed the greatest power of discrimination in all populations studied. The combined match probability ranged from 8.06E−27 (Saraiki) to 1.05E−26 (Baloch), and the combined power of exclusion ranged from 0.99999999902 (Punjabi) to 0.99999999964 (Pashtun). D12S391 in the Baloch population and D2S441 in the Saraiki population showed deviation from Hardy-Weinberg equilibrium. Conclusion Significant genetic distances were observed between the Punjabi, Pashtun, and Baloch populations. This study supports the utilization of the GlobalFilerTM STR kit for forensic applications in Pakistan. Keywords Pakistan . GlobalFiler™ . Autosomal STRs . Forensic genetics . Population genetics
Introduction Pakistan is a meeting point of South Asia, Central Asia, and West Asia [1]. This area and its neighbouring regions have witnessed massive human migrations several times in history [2, 3]. The region harboured several ancient cultures important to the history of the Indian subcontinent. The ancient history involved the Neolithic site of Mehrgarh and the Bronze Age Indus Valley Civilization (3300 to 1300 BCE), known to be among the oldest civilizations in the world [4, 5]. Several invaders, including Arabs, Aryans, Mongols, and Macedonians, have contributed to the genetic heterogeneity of the Pakistani population [1]. Pakistan is the sixth most populous country in the world with a Electronic supplementary material The online version of this article (https://doi.org/10.1007/s00414-020-02393-y) contains supplementary material, which is available to authorized users. * Muhammad Adnan Shan [email protected] 1
Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Frederik V’s Vej 11, DK-2100 Copenhagen, Denmark
2
Centre for Applied Molecular Biology (CAMB), University of the Punjab, Lahore, Pakistan
population exceeding 212 million people [6]. Pakistan is a linguistically diverse country, and its population can be divided into more than 18 ethnic groups that speak over 60 different languages [7]. Punjab is the most populous province of the country [8] and home of the Punjabi population. The southern part of Punjab is the home of the Saraiki-speaking people [9]. Baloch are residents of the province Baluchistan and are thought to originate from Iranian population groups [10]. The Sindhi people in the Sindh provi
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