title: Novel variant transthyretin gene (Ser50 to Ile) in familial cardiac amyloidosis.
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.
authors.affiliation: Department of Genetics, Kyushu University, Fukuoka, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Nishi
authors.forename: A
authors.initials: A
authors.lastname: Kimura
authors.forename: H
authors.initials: H
authors.lastname: Harada
authors.forename: Y
authors.initials: Y
authors.lastname: Hayashi
authors.forename: M
authors.initials: M
authors.lastname: Nakamura
authors.forename: T
authors.initials: T
authors.lastname: Sasazuki
mesh_terms: D000686:Amyloidosis / Q000235:genetics*; D001483:Base Sequence; D009202:Cardiomyopathies / Q000235:genetics*; D003001:Cloning, Molecular; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004591:Electrophoresis, Polyacrylamide Gel; D006801:Humans; D007532:Isoleucine / Q000235:genetics; D007564:Japan; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D009690:Nucleic Acid Conformation; D009693:Nucleic Acid Hybridization; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011228:Prealbumin / Q000235:genetics*; D012694:Serine / Q000235:genetics
chemical_list: D011228:Prealbumin; D007532:Isoleucine; D012694:Serine; D004247:DNA