Abstract
Batten disease is the most common progressive neurodegenerative disorder of childhood in western countries. A novel cDNA responsible for Batten disease has recently been identified. We have developed a rapid diagnostic solid phase minisequencing test to detect the major 1.02 kb deletion which is responsible for 81% of affected chromosomes in Batten disease worldwide. In Finland, 90% of Batten chromosomes carry the major deletion owing to the enrichment of the CLN3 gene in the isolated Finnish population.
Full text
PDF
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Gardiner M., Sandford A., Deadman M., Poulton J., Cookson W., Reeders S., Jokiaho I., Peltonen L., Eiberg H., Julier C. Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) gene (CLN3) maps to human chromosome 16. Genomics. 1990 Oct;8(2):387–390. doi: 10.1016/0888-7543(90)90297-8. [DOI] [PubMed] [Google Scholar]
- Mitchison H. M., O'Rawe A. M., Taschner P. E., Sandkuijl L. A., Santavuori P., de Vos N., Breuning M. H., Mole S. E., Gardiner R. M., Järvelä I. E. Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes. Am J Hum Genet. 1995 Mar;56(3):654–662. [PMC free article] [PubMed] [Google Scholar]
- Munroe P. B., Rapola J., Mitchison H. M., Mustonen A., Mole S. E., Gardiner R. M., Jarvela I. Prenatal diagnosis of Batten's disease. Lancet. 1996 Apr 13;347(9007):1014–1015. doi: 10.1016/s0140-6736(96)90148-8. [DOI] [PubMed] [Google Scholar]
- Santavuori P. Neuronal ceroid-lipofuscinoses in childhood. Brain Dev. 1988;10(2):80–83. doi: 10.1016/s0387-7604(88)80075-5. [DOI] [PubMed] [Google Scholar]
- Syvänen A. C., Ikonen E., Manninen T., Bengtström M., Söderlund H., Aula P., Peltonen L. Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland. Genomics. 1992 Mar;12(3):590–595. doi: 10.1016/0888-7543(92)90452-x. [DOI] [PubMed] [Google Scholar]
- Walsh P. S., Erlich H. A., Higuchi R. Preferential PCR amplification of alleles: mechanisms and solutions. PCR Methods Appl. 1992 May;1(4):241–250. doi: 10.1101/gr.1.4.241. [DOI] [PubMed] [Google Scholar]