Abstract

Sobiah Rauf1*, Rubab Hassan1, Zunaira Ehsan1 and Muhammad Ramzan Khan1,2* Author Affiliations 1Genome Editing and Sequencing Lab, National Center for Bioinformatics, Quaid-i-Azam University, Islamabad, Pakistan 2National Institute for Genomics and Advanced Biotechnology, National Agricultural Research Centre, Islamabad, Pakistan Received: September 01, 2020 | Published: September 21, 2020 Corresponding author: Sobiah Rauf, Genome Editing and Sequencing Lab, National Center for Bioinformatics, Quaidi- Azam University, Islamabad, Pakistan Muhammad Ramzan Khan, Genome Editing and Sequencing Lab, National Center for Bioinformatics, Quaid-i-Azam University,National Institute for Genomics and Advanced Biotechnology, National Agricultural Research Centre, Islamabad, Pakistan DOI: 10.26717/BJSTR.2020.30.004973

Highlights

  • Single Nucleotide Polymorphism (SNPs) being simplest form of variation promises the assistance for forensic DNA analyses because of an excess of potential markers, its automation, and reasonable reduction in required fragment length[1]

  • Present results obtained from a dataset of 200 samples using forensically relevant Single nucleotide polymorphism (SNP) markers show that SNP variations are present in individuals of Pothwari population

  • Variations have been observed against 6 primers rs1988436, rs713367, rs199920775, rs34940277, rs3908, and rs1542931 and all these were synonymous, which implies that the SNP variations among sequences are in noncoding region which can have direct impact on function of gene through diverse cellular mechanisms. 100% conservation was observed against rs9785941, rs140078751, rs1805005, and rs116724000 which shows that the sequence is conserved and there is no SNP variation among different individuals for these markers

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Summary

Introduction

Single Nucleotide Polymorphism (SNPs) being simplest form of variation promises the assistance for forensic DNA analyses because of an excess of potential markers, its automation, and reasonable reduction in required fragment length[1]. SNP analysis proves to be more beneficent as compared to STR typing, in dealing with highly degraded biological materials, in some situations including mass disasters, missing persons and unidentified human remains where the DNA may be substantially fragmented, mtDNA[3]Y chromosome study for lineage information purpose, biographical ancestry analysis [4], power to identify phenotypic characteristics [5]. As per forensic application, SNPs have categorized into 5 different types. These include identity-informative SNPs (IISNPs) [8,9,10,11] for recognition purposes, lineage-informative SNPs (LISNPs) [12]for inferring paternity (especially useful in kinship analysis and paternity testing), ancestry-informative SNPs (AISNPs) [9,13]

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