1. A worldwide study of the Huntington's disease mutation: the sensitivity and specificity of measuring CAG repeats
- Author
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Kremer, Berry, Goldberg, Paul, Andrew, Susan E., Theilmann, Jane, Telenius, Hakan, Zeisler, Jutta, Squitieri, Ferdinando, Lin, Biaoyang, Bassett, Ann, Almqvist, Elizabeth, Bird, Thomas D., and Hayden, Michael R.
- Subjects
Huntington's chorea -- Genetic aspects ,Genetic screening ,Genetic code -- Identification and classification - Abstract
A new genetic test may help identify persons at risk for inheriting Huntington's disease, a disease whose effects show in adults and which is characterized by progressive mental deterioration, jerky movements (chorea), and clumsiness. The new test involves analyzing the number of CAG trinucleotide repeats in a gene on the chromosome that mutates and creates Huntington's disease. Ninety-nine per cent of the 1,007 persons studied with a diagnosis of Huntington's disease had expanded CAG repeats. CAG results of persons with other neuropsychiatric disorders were compared to the Huntington's group. These individuals did not exhibit expanded CAG repeats. Previously, the main test to prove whether a person had inherited the mutant gene for Huntington's disease was to obtain DNA samples from key relatives. The new test is more accurate than the DNA tests, and helps maintain the privacy of the individual being tested.
- Published
- 1994