GENETIC ANTICIPATION - EXPANDING TANDEM REPEATS

Authors
Citation
Nj. Carpenter, GENETIC ANTICIPATION - EXPANDING TANDEM REPEATS, Neurologic clinics, 12(4), 1994, pp. 683-697
Citations number
120
Categorie Soggetti
Neurosciences
Journal title
ISSN journal
07338619
Volume
12
Issue
4
Year of publication
1994
Pages
683 - 697
Database
ISI
SICI code
0733-8619(1994)12:4<683:GA-ETR>2.0.ZU;2-Z
Abstract
The phenomenon of genetic anticipation, the progression of severity of an inherited disorder in successive generations, has not had a biolog ic explanation until recently. A new mutational mechanism of unstable trinucleotide (or triplet) tandem repeats in human genes has provided such an explanation. Several neurologic disorders including fragile X syndrome, myotonic dystrophy, Huntington's disease, spinocerebellar at axia type 1, spinal and bulbar muscular atrophy, and FRAXE mental reta rdation, are caused by this type of mutation. A recent approach to ide ntifying expanded repeats may simplify the process of finding candidat e genes for other disorders that show features suggestive of anticipat ion.