Mutations and Polymorphisms: What Is The Difference?

Sameer, Aga Syed; Banday, Mujeeb Zafar; Nissar, Saniya

doi:10.1007/978-981-33-6699-2_1

Aga Syed Sameer^4,5,
Mujeeb Zafar Banday⁶ &
Saniya Nissar⁶

1096 Accesses
6 Citations
8 Altmetric

Abstract

The human genome exhibits a dynamic but limited variation between different individuals and across different geographical and/or racial/ethnical populations which accounts for only 0.1–0.4% of the total genomic DNA or genome. These genetic variations are generally described in terms of mutation and genetic polymorphism. Mutation is defined as the irreversible sequence variation in the DNA which essentiality encompasses all types of variations occurring in the human genome spontaneously or non-spontaneously. Genetic polymorphism which is the most common and dynamic form of genetic variation present throughout the human genome is defined as the presence of two or more alternative forms of an allele in the genome of any individual, which results in distinct phenotypes in the same population. Genetic polymorphism represents most of the variations present in the human genome and includes four different annotated types, viz. single nucleotide polymorphisms (SNPs), copy number variants (CNVs), insertions or deletions (indels), and structural variants. Of these, single nucleotide polymorphisms (SNPs), which involve the substitution of a single nucleotide by another nucleotide at a specific location within the genome, account for more than 90% of all the human genetic variations and thus constitute an important aspect of genetic variation exhibited by the human genome.

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Abbreviations

ACE:: Angiotensin-converting enzyme
CNPs:: Copy number polymorphisms
CNVs:: Copy number variants
DNA:: Deoxyribo nucleic acid
GP:: Genetic polymorphisms
GPC:: Genome project consortium
GVs:: Genetic variations
GWAS:: Genome wide association studies
HGP:: Human genome project
Indels:: Insertions or deletions
ISVs:: Intermediate-sized variants
lncRNAs:: Long noncoding RNAs
LCVs:: Large-scale copy number variants
mCNVs:: Multi-allelic copy number variants
MEIs:: Mobile element insertions
miRNA:: MicroRNA
NUMTs:: Nuclear mitochondrial sequences
SNP:: Single nucleotide polymorphism
UTR:: Untranslated regions

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Basic Medical Sciences, College of Medicine, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Jeddah, Saudi Arabia
Aga Syed Sameer
King Abdullah International Medical Research Centre (KAIMRC), National Guard Health Affairs (NGHA), Jeddah, Saudi Arabia
Aga Syed Sameer
Department of Biochemistry, Government Medical College, Srinagar, Kashmir, India
Mujeeb Zafar Banday & Saniya Nissar

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Basic Medical Sciences, College of Medicine, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Jeddah, Saudi Arabia
Aga Syed Sameer
Department of Biochemistry, Government Medical College, Karan Nagar, Srinagar, Jammu and Kashmir, India
Mujeeb Zafar Banday
Department of Biochemistry, Government Medical College, Karan Nagar, Srinagar, Jammu and Kashmir, India
Saniya Nissar

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Sameer, A.S., Banday, M.Z., Nissar, S. (2021). Mutations and Polymorphisms: What Is The Difference?. In: Sameer, A.S., Banday, M.Z., Nissar, S. (eds) Genetic Polymorphism and cancer susceptibility. Springer, Singapore. https://doi.org/10.1007/978-981-33-6699-2_1

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