Strategy for Mutation Detection in CLN3: Characterisation of Two Finnish Mutations

Patricia B. Munroe; Angela M. O'Rawe; Hannah M. Mitchison; Irma E. Järvelä; Pirkko Santavuori; Terry J. Lerner; P. E. M. Taschner; R. M. Gardiner; Sara E. Mole

doi:10.1055/s-2007-973657

Neuropediatrics 1997; 28(1): 15-17
DOI: 10.1055/s-2007-973657

Short communications

Strategy for Mutation Detection in CLN3: Characterisation of Two Finnish Mutations

Patricia B. Munroe¹ , Angela M. O'Rawe¹ , Hannah M. Mitchison¹ , Irma E. Järvelä² , Pirkko Santavuori³ , Terry J. Lerner⁴ , P. E. M. Taschner⁵ , R. M. Gardiner¹ , Sara E. Mole¹

¹Department of Paediatrics, University College London Medical School, The Rayne Institute, 5 University Street, London WC1E 6JJ, UK,
²Department of Human Molecular Genetics, National Public Health Institute, Mannerheimintie 166, Helsinki, Finland,
³Children's Hospital, Paediatric Neurology, University of Helsinki, Helsinki, Finland,
⁴Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, MA, USA,
⁵Department of Human Genetics, Leiden University, Sylvius Laboratory, Wassenaarseweg 72, Leiden, The Netherlands

Abstract

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Abstract

A strategy for detection of mutations in CLN3, the gene for Batten disease or juvenile onset neuronal ceroid lipofuscinosis, has been devised using a technique which detects conformation polymorphisms and direct sequencing of genomic DNA fragments. We define two mutations found uniquely in Finnish patients, one a large deletion (2.8 Kb), the other a point mutation affecting the 5'splice donor site of an intron.

Key words

CLN3 gene - Mutation - NCL - Finnish

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