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

T. Uemichi, M. A. Gertz, Merrill Benson

Research output: Contribution to journalArticle

13 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)279-281
Number of pages3
JournalJournal of Medical Genetics
Volume32
Issue number4
StatePublished - 1995

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Familial Amyloid Neuropathies
Prealbumin
Carpal Tunnel Syndrome
Thymine
Cytosine
Peripheral Nervous System Diseases
Amyloidosis
Amino Acid Substitution
Cardiomyopathies
DNA Sequence Analysis
Point Mutation
Proline
Codon
Restriction Fragment Length Polymorphisms
Serine
Exons
Alleles
Polymerase Chain Reaction
DNA
Genes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

A new transthyretin variant (Ser 24) associated with familial amyloid polyneuropathy. / Uemichi, T.; Gertz, M. A.; Benson, Merrill.

In: Journal of Medical Genetics, Vol. 32, No. 4, 1995, p. 279-281.

Research output: Contribution to journalArticle

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