DE-NOVO EXPANSION OF A (CAG)(N) REPEAT IN SPORADIC HUNTINGTONS-DISEASE

Citation
Rh. Myers et al., DE-NOVO EXPANSION OF A (CAG)(N) REPEAT IN SPORADIC HUNTINGTONS-DISEASE, Nature genetics, 5(2), 1993, pp. 168-173
Citations number
29
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
10614036
Volume
5
Issue
2
Year of publication
1993
Pages
168 - 173
Database
ISI
SICI code
1061-4036(1993)5:2<168:DEOA(R>2.0.ZU;2-E
Abstract
Huntington's disease (HD) chromosomes contain an expanded unstable (CA G)n repeat in chromosome 4p16.3. We have examined nine families with p otential de novo expression of the disease. With one exception, all of the affected individuals had 42 or more repeat units, well above the normal range. In four families, elderly unaffected relatives inherited the same chromosome as that containing the expanded repeat in the pro band, but had repeat lengths of 34-38 units, spanning the gap between the normal and HD distributions. Thus, mutation to HD is usually assoc iated with an expansion from an already large repeat.