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Genetic Variation

The following describes types of genetic variations

Mutation --  This term usually refers to changes in DNA present in less than 1% of the general population.  It is also often used to refer to changes that cause a disease or genetic disorder. 

Polymorphism --  This term usually refers to genetic changes anywhere within the human genome that are present in greater than 1% of the general population.  These variations in the genome may increase disease susceptibility.  On the other hand, they may help protect against diseases.  Or they may have no effect on an individual's health.  We are only beginning to understand which variations confer susceptibility to disease. 

Polymorphisms are responsible for some of the differences between individuals. 

Polymorphisms are often important when trying to find specific genes and in the identification of specific individuals (i.e. used in identifying criminals and in paternity testing). 

There are different types of polymorphisms.  Some of the more common are described below.

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Last modified: 01/11/03