Definition
An insertion/deletion polymorphism, commonly abbreviated “indel,” is a type of genetic variation in which a specific nucleotide sequence is present (insertion) or absent (deletion). While not as common as SNPs, indels are widely spread across the genome. Indels comprise a total of 3 million of the 15 million known genetic variants (The 1000 Genomes Project Consortium, 2010). An indel in the coding region of a gene that is not a multiple of 3 nucleotides results in a frameshift mutation. Shifting the reading frame and the DNA transcript sequence may now code for an entirely different set of amino acids or result in a premature stop codon, altering the protein structure and function. Indel variants with multiples of 3 nucleotides result in a protein with extra amino acids (insertion) or loss of amino acids (deletion), but the other amino acids are not affected. The site of the indel in the gene is important since it determines which part of the protein is affected, since not...
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References and Readings
Lewis, R. (2005). Human genetics. Concepts and applications (7th ed.). Boston: McGraw-Hill Science/Engineering/Math.
Scharplatz, M., Puhan, M., Steurer, J., & Bachmann, L. (2004). What is the impact of the ACE gene insertion/deletion (I/D) polymorphism on the clinical effectiveness and adverse events of ACE inhibitors? – Protocol of a systematic review. BMC Medical Genetics, 5(1), 23.
Strachan, T., & Read, A. P. (2003). Human molecular genetics (3rd ed.). London/New York: Garland Science/Taylor & Francis Group.
The 1000 Genomes Project Consortium. (2010). A map of human genome variation from population-scale sequencing. Nature, 467(7319), 1061–1073. doi:10.1038/nature09534.
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Rodriguez-Murillo, L., Salem, R.M. (2013). Insertion/Deletion Polymorphism. In: Gellman, M.D., Turner, J.R. (eds) Encyclopedia of Behavioral Medicine. Springer, New York, NY. https://doi.org/10.1007/978-1-4419-1005-9_706
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