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What is the difference between mutation and polymorphism in gene.?

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What is the difference between mutation and polymorphism in gene.?

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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. In this case no single allele is regarded as the standard sequence. Instead there are two or more equally acceptable alternatives. The arbitrary cut-off point between a mutation and a polymorphism is 1 per cent. That is, to be classed as a polymorphism, the least common allele must have a frequency of 1per cent or more in the population. If the frequency is lower that this, the allele is regarded as a mutation.

Why are some sequence variants more common than others? Sequence variants that directly and overtly cause human diseases are generally rare in the population because they reduce fitness. Such disease alleles are classed as mutations. However, not all mutations cause diseases. Any new sequence variant, even if neutral or beneficial in effect, will start off as a rare mutation.

Polymorphic sequence variants usually do not cause overt debilitating diseases. Many are found outside of genes and are completely neutral in effect. Others may be found within genes, but may influence characteristics such as height and hair colour rather than characteristics of medical importance. However, polymorphic sequence variation does contribute to disease susceptibility and can also influence drug responses (see Single nucleotide polymorphisms ).

The above definitions cannot be applied rigorously. A rare disease allele in one population can become a polymorphism in another if it confers an advantage and increases in frequency.

A good example is the allele of sickle-cell disease. In Caucasian populations this is a rare sequence variant of the beta-globin gene that causes a severely debilitating blood disorder. In certain parts of Africa, however, the same allele is polymorphic because it confers resistance to the blood-borne parasite that causes malaria.

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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.
 
Either mostly have been associated with disease (or risk of disease) or have resulted from damage in by external agents (such as viruses or radiation).
 
Most disease causing mutations occur within a gene’s coding or regulatory regions and affect the function of the protein encoded by the gene

In contrast, a polymorphism is a DNA sequence variation that is common in the population. In this case no single allele is regarded as the standard sequence. Instead there are two or more equally acceptable alternatives.

 
The arbitrary cut-off point between a mutation and a polymorphism is 1 per cent. That is, to be classed as a polymorphism, the least common allele must have a frequency of 1per cent or more in the population. If the frequency is lower that this, the allele is regarded as a mutation.
 
SNPs begin their existence as point mutations    a misspelling, that results in the substitution of one amino acid for another in the protein made by a gene), and they eventually become established in a population. This nucleotide substitution must occur in a significant proportion (more than 1%) of a large population for it to be called a SNP.
 
SNPs are not necessarily located within genes, and they do not always affect the way a protein functions.
 

 

 
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Polymorphism is induced from within the cell( i.e. through evolution the cell changes to conform to the changing environment to survive…(after all the basic function of a cell is to use all its various pathways and mechanism to surivive and thereby maintaining its function within the host.), is heritable but is not necessarily harmful to the host. This heritable change will occur in at least 1% of the population. Mutation is induced from outside the cell: by an exogenous factor, is inheritable and does not necessarily harmful to the host. Therefore a mutation is individualised and will therefore occur in less than 1% of the population.

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