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Identification of a novel transthyretin variant (Val30----Leu) associated with familial amyloidotic polyneuropathy. 1992
M Nakazato, and
S Ikeda, and
K Shiomi, and
S Matsukura, and
K Yoshida, and
H Shimizu, and
T Atsumi, and
K Kangawa, and
H Matsuo
Department of Medicine, Miyazaki Medical College, Japan.
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.
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