A new transthyretin variant (Ser 24) associated with familial amyloid polyneuropathy. |
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| Authors: | T Uemichi M A Gertz and M D Benson |
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| Affiliation: | Department of Medicine, Indiana University School of Medicine, Indianapolis, USA. |
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| 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. |
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