Rapid diagnostic test for the major mutation underlying Batten disease.
Open Access
- 1 December 1996
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 33 (12) , 1041-1042
- https://doi.org/10.1136/jmg.33.12.1041
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.Keywords
This publication has 7 references indexed in Scilit:
- Prenatal diagnosis of Batten's diseaseThe Lancet, 1996
- Isolation of a novel gene underlying batten disease, CLN3Cell, 1995
- Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes.1995
- Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: Application to aspartylglucosaminuria in FinlandGenomics, 1992
- Preferential PCR amplification of alleles: mechanisms and solutions.Genome Research, 1992
- Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) gene (CLN3) maps to human chromosome 16Genomics, 1990
- Neuronal ceroid-lipofuscinoses in childhoodBrain & Development, 1988