Abstract
An American kindred with systemic amyloidosis presenting with carpal tunnel syndrome, peripheral neuropathy, and cardiomyopathy is reported. The transthyretin gene of a patient was analysed by direct DNA sequencing and both cytosine and thymine were present at the first base of codon 24. This new point mutation in exon 2 results in the amino acid substitution of serine for proline in the A-B loop of the transthyretin molecule. DNA testing for this mutant allele by restriction fragment length polymorphism analysis based on the polymerase chain reaction is described.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, Non-P.H.S.
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Aged
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Amyloid Neuropathies / complications
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Amyloid Neuropathies / genetics*
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Cardiomyopathies / complications
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Cardiomyopathies / genetics
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Codon
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Cytosine / chemistry
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DNA / chemistry
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DNA / genetics
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Exons
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Family Health
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Female
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Genetic Variation
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Heterozygote
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Humans
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Male
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Middle Aged
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Pedigree
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Point Mutation*
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Polymerase Chain Reaction
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Polymorphism, Restriction Fragment Length
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Prealbumin / genetics*
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Proline / chemistry
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Proline / genetics
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Sequence Analysis, DNA
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Serine / chemistry
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Serine / genetics
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Thymine / chemistry
Substances
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Codon
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Prealbumin
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Serine
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Cytosine
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DNA
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Proline
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Thymine