Abstract
We have studied, by the polymerase chain reaction, the beta-galactosidase cDNA from several Italian patients with infantile GM1-gangliosidosis. One homozygote for a previously undiscovered G > A mutation at position 1479, causing an arginine to histidine change, was detected. The same mutation, in heterozygosis, was identified in 6 unrelated patients, but not in 100 normal chromosomes.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Arginine / genetics*
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Base Sequence
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DNA Mutational Analysis
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DNA, Single-Stranded
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Gangliosidosis, GM1 / genetics*
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Histidine / genetics*
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Homozygote*
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Humans
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Infant
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Molecular Sequence Data
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Point Mutation*
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Polymerase Chain Reaction
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RNA, Messenger / genetics
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beta-Galactosidase / genetics*
Substances
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DNA, Single-Stranded
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RNA, Messenger
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Histidine
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Arginine
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beta-Galactosidase