Lesson plan

Premutation

A premutation is a situation in which there are an excess number of repeats in a gene that is at risk of increasing in length during reproduction but does not cause disease in the affected person. Fragile X syndrome, a trinucleotide repeat disorder, is a condition in which premutations may be present in the parents of affected people. Huntington's disease is another example of a trinucleotide repeat disorder in which individuals with a certain excess of repeats (27–39) of the CAG codon in the Huntingtin gene may not have the disease but are more likely to have a child with enough repeats (40+) to cause the disease.

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Article summary

A premutation is a situation in which there are an excess number of repeats in a gene that is at risk of increasing in length during reproduction but does not cause disease in the affected person. Fragile X syndrome, a trinucleotide repeat disorder, is a condition in which premutations may be present in the parents of affected people. Huntington's disease is another example of a trinucleotide repeat disorder in which individuals with a certain excess of repeats (27–39) of the CAG codon in the Huntingtin gene may not have the disease but are more likely to have a child with enough repeats (40+) to cause the disease.

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Discussion questions

  1. Summarise the article in your own words. Which single claim would you verify first, and why?
  2. Which claim in this article is most likely to be revised as the sources update? How would you check its current status?
  3. If two sources disagreed about one of these facts, what would you need in order to trust one over the other?

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