Novel variant transthyretin gene (Ser50 to Ile) in familial cardiac amyloidosis.

Article Details

Citation

Nishi H, Kimura A, Harada H, Hayashi Y, Nakamura M, Sasazuki T

Novel variant transthyretin gene (Ser50 to Ile) in familial cardiac amyloidosis.

Biochem Biophys Res Commun. 1992 Aug 31;187(1):460-6.

PubMed ID
1520336 [ View in PubMed
]
Abstract

We detected a point mutation in the transthyretin (TTR) gene in a patient with familial cardiac amyloidosis by using PCR-DCP (DNA conformation polymorphism) analysis that is based on the diversity in electrophoretic mobility of single-stranded DNAs and/or heteroduplex DNAs in PCR products. The PCR products of the transthyretin gene were denatured in the presence of formamide and electrophoresed in a non-denaturing polyacrylamide gel to detect an electrophoretic change due to a sequence variation. An unusual DNA fragment was visualized by silver staining in the PCR products of the exon 3 from the patient. Subsequent sequencing analysis revealed a T to A transversion and led to a replacement of Ser by Ile at codon 50 of the TTR gene.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
TransthyretinP02766Details