A novel mutant (transthyretin Ile-50) related to amyloid polyneuropathy. Single-strand conformation polymorphism as a new genetic marker.

Abstract

DNA sequence polymorphisms in transthyretin (TTR) genes were investigated by single-strand conformation polymorphism (SSCP) analysis of polymerase chain reaction products. The amplified DNA fragments that encode each exon of the normal TTR gene showed two bands, representing the two complementary single strands of DNA. In one patient with amyloid polyneuropathy, the exon 3 DNA showed a unique, aberrant migration pattern. Direct sequencing analysis of the amplified exon 3 revealed a single base change (G-to-T), resulting in a novel amino acid substitution (Ser-50----Ile). We also present the SSCP patterns for five known Japanese TTR variants.

• Authors: Y Saeki, S Ueno, N Takahashi, F Soga, T Yanagihara
• Journal: FEBS letters (FEBS Lett) Vol. 308 Issue 1 Pg. 35-7 (Aug 10 1992) ISSN: 0014-5793 [Print] England
• PMID: 1644201 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DNA, Single-Stranded
• Genetic Markers
• Prealbumin
• Isoleucine

Topics

• Amyloidosis (genetics)
• Autoradiography
• Base Sequence
• DNA Mutational Analysis
• DNA, Single-Stranded (genetics)
• Genetic Markers
• Humans
• Isoleucine (genetics)
• Molecular Sequence Data
• Mutation
• Nervous System Diseases (genetics)
• Polymerase Chain Reaction
• Polymorphism, Genetic
• Prealbumin (genetics)