How gene polymorphism is different from gene mutation? all gene polymorphisms contribute to disease susceptibility?
A mutation is defined as any change in a DNA sequence away from normal. This implies there is a normal allele that is prevalent in the population and that the mutation changes this to a rare and abnormal variant. In contrast, a polymorphism is a DNA sequence variation that is common in the population
https://www.ncbi.nlm.nih.gov/books/NBK6475/
Have look at the answers to several similar questions on RG. If you use the search function, you will easily find the information you are looking for...
https://www.researchgate.net/post/What_is_the_difference_between_somatic_mutation_and_SNPs
https://www.researchgate.net/post/How_can_I_confirm_that_a_sequence_variation_is_a_mutation_or_Polymorphism
https://www.researchgate.net/post/What_is_the_difference_between_polymorphism_and_a_mutation
Mutation results due to DNA sequence changes specifically that happen once an allele is transfered from one generation to another and initiate alterations in the allele status from normal to abnormal. In contrast, gene polymorphism is defined as a variation that occurs in allele in a DNA sequence.
Gene polymorphisms are caused by duplications, deletions, and a mutation of triplication of high quantity of DNA base pairs sequences. In addition, Polymorphisms may occur due to changes inside introns or changes in regions that one or multiple DNA bases that are between genes. If the changes occur in a gene’ coding sequence, then different phenotypes may appear as a result of protein variation that is caused by sequence changes. These changes are located exactly in genes’ coding sequence
Karki et al (BMC Med Genomics - 2015) report these definitions:
- mutation: DNA variant present in < 1% of the population;
- SNP: DNA variant present ≥ 1% of the population.
Therefore, according to the population selected, a variant could be a SNP or a mutation. And a homozygous SNP could also be disease-causing.
They propose that a mutation should be defined as "result of a recent mutation event which has been detected using as a reference the germline DNA of the same individual". In the paper you can find further discussion about the nomenclature.
Article Defining “mutation” and “polymorphism” in the era of personal genomics
https://www.researchgate.net/post/How_can_I_confirm_that_a_sequence_variation_is_a_mutation_or_Polymorphism
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