title: Rapid diagnostic test for the major mutation underlying Batten disease.
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.
authors.affiliation: National Public Health Institute, Department of Human Molecular Genetics, Helsinki, Finland.
authors.forename: I
authors.initials: I
authors.lastname: Järvelä
authors.forename: H M
authors.initials: HM
authors.lastname: Mitchison
authors.forename: P B
authors.initials: PB
authors.lastname: Munroe
authors.forename: A M
authors.initials: AM
authors.lastname: O'Rawe
authors.forename: S E
authors.initials: SE
authors.lastname: Mole
authors.forename: A C
authors.initials: AC
authors.lastname: Syvänen
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods*; D005387:Finland; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis* / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods; D017384:Sequence Deletion