Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR.

doi:10.1136/jmg.34.11.955

Back to search

Article

Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR.

Journal of medical genetics - 1 Nov 1997

Taschner P E, de Vos N, Breuning M H

Abstract excerpt

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...

Topics

Alleles
Female
Gene Deletion
Genetic Testing
Humans
Male
Membrane Glycoproteins
Molecular Chaperones
Neuronal Ceroid-Lipofuscinoses
Pedigree
Polymerase Chain Reaction
Proteins

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.