Premium
A novel mutant (transthyretin Ile‐50) related to amyloid polyneuropathy Single‐strand conformation polymorphism as a new genetic marker
Author(s) -
Saeki Yoshinaga,
Ueno Satoshi,
Takahashi Nobuyuki,
Soga Fumihisa,
Yanagihara Takehiko
Publication year - 1992
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/0014-5793(92)81044-m
Subject(s) - single strand conformation polymorphism , transthyretin , exon , genetics , biology , microbiology and biotechnology , gene , dna , dna sequencing , polymerase chain reaction , mutant , endocrinology
DNA sequence polymorphisms in transthyretin (TrR) 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.