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Diagnosis of Familial Amyloid Polyneuropathy by Recombinant DNA Techniques in Relation with Clinical Features

  • Toshihide Harada
  • Shozo Kito
  • Masanori Shimoyama
  • Sadao Katayama
  • Hiroyuki Sasaki
  • Hirokazu Furuya
  • Katsuji Yoshioka
  • Yoshiyuki Sakaki
Chapter

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.

Keywords

Cerebellar Ataxia Nagano Prefecture Familial Amyloid Polyneuropathy Primary Amyloidosis Hiroshima Prefecture 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Science+Business Media New York 1988

Authors and Affiliations

  • Toshihide Harada
    • 1
  • Shozo Kito
    • 1
  • Masanori Shimoyama
    • 1
  • Sadao Katayama
    • 1
  • Hiroyuki Sasaki
    • 1
    • 2
  • Hirokazu Furuya
    • 1
    • 2
  • Katsuji Yoshioka
    • 1
    • 2
  • Yoshiyuki Sakaki
    • 1
    • 2
  1. 1.Third Dep. Int. Med. Hiroshima Univ. Sch. Med.Minamiku, Hiroshima 734Japan
  2. 2.Res. Lab. Genetic Information, Kyushu UnivHigashiku, Fukuoka 812Japan

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