Abstract
The genetic differences between two types of dominant inherited myoclonus epilepsy, dentatorubral pallidoluysian atrophy (DRPLA) and benign adult familial myoclonus epilepsy (BAFME), have been reported. A gene with a CAG repeat expansion responsible for DRPLA has been isolated. We have examined CAG repeat expansion in the DRPLA gene in five BAFME families, and the abnormal CAG expansion was not observed in the affected subjects. Linkage analysis using DNA polymorphisms in the DRPLA gene and the genes for gamma-aminobutyric acid (GABA) receptor subunits, GABAR beta 1, GABAR beta 3, and GABAR alpha 6, showed that these genes were not responsible for BAFME.
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- Dean M., Lucas-Derse S., Bolos A., O'Brien S. J., Kirkness E. F., Fraser C. M., Goldman D. Genetic mapping of the beta 1 GABA receptor gene to human chromosome 4, using a tetranucleotide repeat polymorphism. Am J Hum Genet. 1991 Sep;49(3):621–626. [PMC free article] [PubMed] [Google Scholar]
- Lehesjoki A. E., Koskiniemi M., Norio R., Tirrito S., Sistonen P., Lander E., de la Chapelle A. Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping. Hum Mol Genet. 1993 Aug;2(8):1229–1234. doi: 10.1093/hmg/2.8.1229. [DOI] [PubMed] [Google Scholar]
- Nagafuchi S., Yanagisawa H., Ohsaki E., Shirayama T., Tadokoro K., Inoue T., Yamada M. Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA). Nat Genet. 1994 Oct;8(2):177–182. doi: 10.1038/ng1094-177. [DOI] [PubMed] [Google Scholar]
- Sano A., Yamauchi N., Kakimoto Y., Komure O., Kawai J., Hazama F., Kuzume K., Sano N., Kondo I. Anticipation in hereditary dentatorubral-pallidoluysian atrophy. Hum Genet. 1994 Jun;93(6):699–702. doi: 10.1007/BF00201575. [DOI] [PubMed] [Google Scholar]
- Wagstaff J., Knoll J. H., Fleming J., Kirkness E. F., Martin-Gallardo A., Greenberg F., Graham J. M., Jr, Menninger J., Ward D., Venter J. C. Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15. Am J Hum Genet. 1991 Aug;49(2):330–337. [PMC free article] [PubMed] [Google Scholar]