title: Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR.
abstract: The recent isolation of the CLN3 gene involved in Batten disease (juvenile neuronal ceroid lipofuscinosis) creates possibilities for direct detection of mutations which can confirm or indicate the clinical diagnosis of Batten disease. We have designed a rapid and reliable allele specific PCR test for the detection of the major deletion, which can be used in carrier diagnosis, presymptomatic diagnosis, and prenatal diagnosis.
authors.affiliation: Department of Genetics, Sylvius Laboratories, Leiden University, The Netherlands.
authors.forename: P E
authors.initials: PE
authors.lastname: Taschner
authors.forename: N
authors.initials: N
authors.lastname: de Vos
authors.forename: M H
authors.initials: MH
authors.lastname: Breuning
mesh_terms: D000483:Alleles; D005260:Female; D017353:Gene Deletion; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins; D018832:Molecular Chaperones; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods*; D011506:Proteins / Q000235:genetics*
chemical_list: C105199:CLN3 protein, human; D008562:Membrane Glycoproteins; D018832:Molecular Chaperones; D011506:Proteins