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Health Watch -- Gene Mutations
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Health Watch is a Public Service of the Office of News and Publications and is intended to provide general information only and should not replace the advice of a medical professional. You should contact your physician if you have questions about any of these topics.



The human genetic code is massive and complex. How do you go about finding the trouble spots?

Researchers at UT Southwestern Medical Center at Dallas have taken the first steps toward finding the spots on the human genome that are most prone to mutation. This knowledge could lead to a better understanding of many human diseases.

The researchers studied a database of common and simple genetic mutations. They discovered that a large fraction of these mutations occur at a relatively small number of DNA sequence patterns. These mutations account for a disproportional number of all gene mutations.

By understanding this, geneticists may be able to determine how likely a specific gene is to mutate, given its location.

Now that the researchers have discovered this trend, they plan more study to see if they can predict where mutations are likely to occur. By doing this using computer statistics and laboratory experimentation, they may discover mutations that haven't been noticed before.

It's possible that this research could allow scientists to be more aggressive in discovering the genetic basis of many human diseases. If scientists know the genetic regions to look for, instead of having to wade through the entire 3-billion-letter code, they can be much more focused in their research.

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