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Understanding Cancer Series

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  • Posted: 10/20/2009

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Slide 7

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Genome-Wide Profiling: Polymorphism Analysis

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Another approach is called polymorphism analysis. Polymorphism analysis is used to find variation in genetic sequence across the genome; some tests look for variation in single base pairs (single-nucleotide polymorphisms), whereas others look for tandem repeats (simple sequence repeats) or insertions of several telltale bases (restriction-fragment length polymorphisms).

Once sequence polymorphisms that are potentially associated with cancer are identified, these must be validated through further research in independent populations. Polymorphism data will be used in conjunction with other genetic, genomic, and clinical information.

Graphic shows little flags projecting from coiled DNA and a zoom from the flags shows that the different color of flag represents a different change that can occurred in the genetic material. A red flag means that a chemical base has switched from the common one to a less common one at a particular spot in the DNA. A blue flag means that some chemical bases are missing from their usual spot in the DNA. And a purple flag means that extra bases have been inserted into the DNA.