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What do geneticists mean by anticipation?

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The signs and symptoms of some genetic conditions tend to become more severe and appear at an earlier age as the disorder is passed from one generation to the next. This phenomenon is called anticipation. Anticipation is most often seen with certain genetic disorders of the nervous system, such as Huntington disease, myotonic dystrophy, and fragile X syndrome.

Anticipation typically occurs with disorders that are caused by an unusual type of mutation called a trinucleotide repeat expansion. A trinucleotide repeat is a sequence of three DNA building blocks (nucleotides) that is repeated a number of times in a row. DNA segments with an abnormal number of these repeats are unstable and prone to errors during cell division. The number of repeats can change as the gene is passed from parent to child. If the number of repeats increases, it is known as a trinucleotide repeat expansion. In some cases, the trinucleotide repeat may expand until the gene stops functioning normally. This expansion causes the features of some disorders to become more severe with each successive generation.

Most genetic disorders have signs and symptoms that differ among affected individuals, including affected people in the same family. Not all of these differences can be explained by anticipation. A combination of genetic, environmental, and lifestyle factors is probably responsible for the variability, although many of these factors have not been identified. Researchers study multiple generations of affected family members and consider the genetic cause of a disorder before determining that it shows anticipation.

For more information about anticipation:

The Merck Manual for Healthcare Professionals provides a brief explanation of anticipation as part of its chapter on nontraditional inheritanceThis link leads to a site outside Genetics Home Reference..

The Myotonic Dystrophy Foundation describes anticipation in the context of myotonic dystrophyThis link leads to a site outside Genetics Home Reference.. (Click on the tab that says “Anticipation.”)

Additional information about anticipation is available from the textbook Human Molecular Genetics 2 in chapter 3.2, Complications to the Basic Pedigree PatternsThis link leads to a site outside Genetics Home Reference..


Next: What are genomic imprinting and uniparental disomy?

 
Published: December 16, 2014