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.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adolescent
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Amino Acid Sequence / genetics
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Child
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Child, Preschool
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Chromosome Deletion
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Cyclins*
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DNA Mutational Analysis*
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Finland
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Genetic Carrier Screening
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Humans
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Infant
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Introns
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Membrane Glycoproteins / genetics*
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Molecular Chaperones / genetics*
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Molecular Sequence Data
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Neuronal Ceroid-Lipofuscinoses / diagnosis
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Neuronal Ceroid-Lipofuscinoses / genetics*
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Point Mutation
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Polymerase Chain Reaction
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Polymorphism, Single-Stranded Conformational
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Saccharomyces cerevisiae Proteins*
Substances
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CLN3 protein, S cerevisiae
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CLN3 protein, human
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Cyclins
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Membrane Glycoproteins
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Molecular Chaperones
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Saccharomyces cerevisiae Proteins