Rapid diagnostic test for the major mutation underlying Batten disease. Issue 12 (December 1996)

• Record Type: Journal Article
• Authors: Järvelä, I; Mitchison, H M; Munroe, P B; O'Rawe, A M; Mole, S E; Syvänen, A C
• Is Part Of: Journal of medical genetics. Volume 33:Issue 12(1996)
• Page Start: 1041
• Page End: 1042
• Publication Date: 1996-12
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.33.12.1041
• Languages: English
• ISSNs: 1468-6244

Abstract

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.