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

FEBS Letters

Yanagihara, Takehiko¹  Ueno, Satoshi¹  Saeki, Yoshinaga¹  Soga, Fumihisa¹  Takahashi, Nobuyuki¹ 

[1] Department of Neurology, Osaka University Medical School, 1-1-5 Fukushima, Fukushima-ku, Osaka 553, Japan

关键词: Familial amyloid polyneuropathy;    Transthyretin variant;    Single-strand conformation polymorphism analysis;    Japanese variant;    TTR;    transthyretin;    FAP;    familial amyloid polyneuropathy;    SSCP;    single-strand conformation polymorphism(s);    PCR;    polymerase chain reaction;    RFLP;    restriction fragment length polymorphism;    ASO;    allele-specific oligonucleotide;   

DOI  :  10.1016/0014-5793(92)81044-M

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

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.

【 授权许可】

Unknown