Abstract
Andrade (1952) type familial amyloid polyneuropathy (FAP) is a disease inherited by autosomal dominance. Serum prealbumin variant with a substitution of methionine (Met) for valine (Val) at position 30 is known to be etiologically related to Andrade type FAP (Tawara et al., 1983; Nakazato et al., 1984; Dwulet and Benson, 1984). With the recent advances in gene manipulation techniques, methods of diagnosis of Andrade type FAP at the DNA level have been established(Sasaki et al., 1984; Mita et al., 1984). The diagnosis is based on the fact that a nucleotide substitution responsible for Val-Met interchange results in formation of new restriction sites for Nsi 1 and Bal 1. Kito et al. (1973) discovered the second largest conglomeration of the disease of the world in Nagano Prefecture, Japan. Since that time, we have carried out long-term epidemiological, neurological and biochemical studies on a group of FAP families in Nagano Prefecture.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Andrade, C., 1952, A peculiar form of peripheral neuropathy, Brain, 75: 408.
Dwulet, F. E., and Benson, M. D., 1984, Primary structure of an amyloid prealbumin and its plasma precursor in a heredofamilial polyneuro-pathy of Swedish origin, Proc. Natl. Acad. Sci. USA, 81:694.
Itoga, E., and Kito, S., 1982, Genetic aspects of familial amyloid polyneuropathy in Ogawa Village, Japan, Jpn. J. Human Genet. 27:319.
Kito, S., Fujimori, N., Yamamoto, M,, Itoga, E., and Toyozumi, Y., 1973, A new focus of familial amyloid polyneuropathy, Nippon Rinsho, 31: 2326.
Kobayashi, T., Nakagawa, S., Oguchi, K., Yanagisawa, N., and Tsukagoshi, H., 1978, A family of familial amyloidosis with cerebellar ataxia and pyramidal tract sign-clinical and genetic study-, Clin. Neurol.(Tokyo), 18:515.
Mita, S., Maeda, S., Shimada, K., and Araki, S., 1984, Cloning and sequence analysis of cDNA for human prealbumin, Biochem. Biophys. Res. Commun., 124:558.
Nakazato, M., Kangawa, K., Minamino, N., Tawara, S., Matsuo, H., and Araki, S., 1984, Identification of a prealbumin variant in the serum of a Japanese patient with familial amyloidotic polyneuropathy, Biochem. Biophys. Res. Commun., 122:712.
Ryan, J., Barker, P. E., Shimizu, K., Wigler, M., and Ruddle, F. H., 1983, Chromosomal assignment of a family of human oncogenes, Proc. Natl. Acad. Sci. USA, 80:4460.
Sasaki, H., Sakaki, Y., Matsuo, H., Goto, I., Kuroiwa, Y., Sahashi, I., Takahashi, A., Shinoda, T,, Isobe, T., and Takagi, Y., 1984, Diagnosis of familial amyloidotic polyneuropathy by recombinant DNA techniques, Biochem. Biophys. Res. Commun., 125:636.
Southern, E. M., 1975, Detection of specific sequences among DNA fragments separated by gel electrophoresis, J. Mol. Biol., 98:503.
Tawara, S., Nakazato, M., Kangawa, K., Matsuo, H., and Araki, S., 1983, Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type), Biochem. Biophys. Res. Commun., 116:880.
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1988 Springer Science+Business Media New York
About this chapter
Cite this chapter
Harada, T. et al. (1988). Diagnosis of Familial Amyloid Polyneuropathy by Recombinant DNA Techniques in Relation with Clinical Features. In: Isobe, T., Araki, S., Uchino, F., Kito, S., Tsubura, E. (eds) Amyloid and Amyloidosis. Springer, Boston, MA. https://doi.org/10.1007/978-1-4757-0298-9_61
Download citation
DOI: https://doi.org/10.1007/978-1-4757-0298-9_61
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4757-0300-9
Online ISBN: 978-1-4757-0298-9
eBook Packages: Springer Book Archive