Abstract

BackgroundToday, when forensic experts talk about quantifiable hereditary traits, they do not just depend on the assessment and examination of DNA profiles but also relate them to the population structures. The use of high-throughput molecular marker technologies and advanced statistical and software tools have improved the accuracy of human genetic diversity analysis in many populations with limited time and resources. The present study aimed to investigate the genomic diversity in Gujarat’s Rabari population, using 20 autosomal genetic markers.Numerous bio-statistical software programs are available for the interpretation of population data in forensics. These statistics deal with the measurement of uncertainty and also provides a probability of a random match. The present paper aims to provide a practical guide to the analysis of population genetics data. Three statistical software packages named Cervus, Genepop, and Fstat are compared and contrasted. The comparison is performed on the profiles obtained from fifty unrelated blood samples of healthy male individuals. DNA was extracted using the organic extraction method, 20 autosomal STR loci were amplified using PowerPlex 21 kit (Promega, Madison, WI, USA) and detected on 3100 Genetic Analyser (Life Technologies Corporation, Carlsbad, CA, USA).ResultsA total of 170 alleles were observed in the Rabari Tribe of Gujarat population, and allele frequencies ranged from 0.010 to 0.480. The highest allele frequency detected was 0.480 for allele 9 at locus TH01. Based on heterozygosity and the polymorphism information content, FGA may be considered as the most informative markers. Both the combined power of discrimination (CPD) and the combined power of exclusion (CPE) for the 20 analyzed loci were higher than 0.999999. The combined match probability (CPM) for all 20 loci was 2.5 × 10−22.ConclusionsWith respect to the results, the 20 STR loci are highly polymorphic and discriminating in the Gujarat population and could be used for forensic practice and population genetics studies. However, Fstat demonstrated better genetic software for analysis of the demographic structure of a specific or set of populations.

Highlights

  • Today, when forensic experts talk about quantifiable hereditary traits, they do not just depend on the assessment and examination of DNA profiles and relate them to the population structures

  • This study reports the genetic portrait of the Rabari population using the PowerPlex 21 system (D1S1656, D2S1338, D3S1358, D5S818, D6S1043, D7S820, D8S1179, D12S391, D13S317, D16S539, D18S51, D19S433, D21S11, Amelogenin, CSF1PO, FGA, Penta D, Penta E, TH01, TPOX, and vWA)

  • Genetic analysis based on sizeable datasets can provide high statistical confidence that can be useful for forensic cases (Arenas et al 2017)

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Summary

Introduction

Today, when forensic experts talk about quantifiable hereditary traits, they do not just depend on the assessment and examination of DNA profiles and relate them to the population structures. Short tandem repeats (STRs) markers have gained much popularity in forensic DNA analysis for human identity testing, paternity testing, and population genetics studies (Wyner et al 2020). The genomic characteristics such as Mishra et al Egyptian Journal of Forensic Sciences (2021) 11:26. We have reported allele frequencies and forensic parameters of 20 autosomal STR loci in a sample of 50 unrelated healthy adults from the Rabari population. Powerful new methods have been developed to analyze genetic data, sometimes relying on massive computations These methods are implemented in various software packages and programs, which have grown in number tremendously in the past few years (Butler 2006; Kumawat et al 2020). The different software were selected based on (i) ease of downloading, (ii) open access software, (iii) the ability to analyze co-dominant data, and (iv) ease of running using a Microsoft Window interface (Coombs et al 2008)

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