Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR
| Autor: | N de Vos, Peter E.M. Taschner, MH Breuning |
|---|---|
| Rok vydání: | 1997 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities Batten disease Prenatal diagnosis Biology Polymerase Chain Reaction law.invention Neuronal Ceroid-Lipofuscinoses law Genetics medicine Humans Genetic Testing Allele Alleles Genetics (clinical) Polymerase chain reaction Genetic testing Membrane Glycoproteins medicine.diagnostic_test Proteins food and beverages nutritional and metabolic diseases medicine.disease Pedigree CLN3 Female Neuronal ceroid lipofuscinosis Variants of PCR Gene Deletion Research Article Molecular Chaperones |
| Zdroj: | Journal of Medical Genetics. 34:955-956 |
| ISSN: | 1468-6244 |
| DOI: | 10.1136/jmg.34.11.955 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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