Novel variant transthyretin gene (Ser50 to Ile) in familial cardiac amyloidosis.
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.
Nishi
H
H
Department of Genetics, Kyushu University, Fukuoka, Japan.
Kimura
A
A
Harada
H
H
Hayashi
Y
Y
Nakamura
M
M
Sasazuki
T
T
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
D011228:Prealbumin; D007532:Isoleucine; D012694:Serine; D004247:DNA