A new transthyretin variant (Ser 24) associated with familial amyloid polyneuropathy

Tomoyuki Uemichi, Morie A. Gertz, Merrill D. Benson

Research output: Contribution to journalArticlepeer-review

14 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)279-281
Number of pages3
JournalJournal of medical genetics
Issue number4
StatePublished - Apr 1995

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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