Premutation Explained

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 which does not cause disease in the person with the excess number of repeats.[1] Fragile X syndrome, a trinucleotide repeat disorder, is a condition in which premutations may be present in the parents of affected people.[2] 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.[3]

References

  1. Book: Gersen . Steven L. . Keagle . Martha B. . The Principles of Clinical Cytogenetics . 2008 . Springer Science & Business Media . 9781592598335 . 505 . en.
  2. Web site: fragile X syndrome. April 2012. Genetics Home Reference. https://web.archive.org/web/20161009162713/https://ghr.nlm.nih.gov/condition/fragile-x-syndrome. 9 October 2016. live. 7 October 2016.
  3. Walker FO. January 2007. Huntington's disease. Lancet. 369. 9557. 218–28. 10.1016/S0140-6736(07)60111-1. 17240289. 46151626.