Identification of a novel transthyretin variant (Val30----Leu) associated with familial amyloidotic polyneuropathy.
A novel variant transthyretin which contains a leucine-for-valine substitution at position 30 was isolated and identified in the serum of a patient with familial amyloidotic polyneuropathy (FAP). The amino acid substitution was proven to result from a guanine-to-cytosine change at the first base of codon 30 located in exon 2 in the mutated transthyretin gene by restriction fragment length analysis on the amplified transthyretin gene using Cfr13 I. The study indicates that the point mutation of the transthyretin gene is a cause of the disorder.
Nakazato
M
M
Department of Medicine, Miyazaki Medical College, Japan.
Ikeda
S
S
Shiomi
K
K
Matsukura
S
S
Yoshida
K
K
Shimizu
H
H
Atsumi
T
T
Kangawa
K
K
Matsuo
H
H
D000595:Amino Acid Sequence; D000686:Amyloidosis / Q000097:blood* / Q000235:genetics; D001483:Base Sequence; D002851:Chromatography, High Pressure Liquid; D004247:DNA; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009422:Nervous System Diseases / Q000097:blood* / Q000235:genetics; D011228:Prealbumin / Q000737:chemistry* / Q000235:genetics
D011228:Prealbumin; D004247:DNA