Diagnosis of familial amyloidotic polyneuropathy by recombinant DNA techniques

Hiroyuki Sasaki, Y. Sakaki, H. Matsuo, I. Goto, Y. Kuroiwa, I. Sahashi, A. Takahashi, T. Shinoda, T. Isobe, Y. Takagi

Research output: Contribution to journalArticle

85 Citations (Scopus)

Abstract

An amino acid substitution of Met for Val at position 30 of plasma prealbumin is known to be closely related to heredo-familial amyloidotic polyneuropathy (FAP). As a first step in development of a direct method for diagnosis of the disease, cDNA for normal human prealbumin was cloned and its nucleotide sequence was determined. Our results showed that the nucleotide substitution responsible for the Val → Met change results in formation of new restriction sites for BalI and NsiI. By Southern blot hybridization analysis, the expected restriction sites were actually detected in the prealbumin locus of patients. Thus, a method was developed for diagnosis of the disease presymptomatically and prenatally.

Original languageEnglish
Pages (from-to)636-642
Number of pages7
JournalBiochemical and Biophysical Research Communications
Volume125
Issue number2
DOIs
Publication statusPublished - Dec 14 1984

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Prealbumin
Recombinant DNA
Polyneuropathies
Substitution reactions
Nucleotides
Amino Acid Substitution
Southern Blotting
Complementary DNA
Plasmas
Amino Acids

All Science Journal Classification (ASJC) codes

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology

Cite this

Diagnosis of familial amyloidotic polyneuropathy by recombinant DNA techniques. / Sasaki, Hiroyuki; Sakaki, Y.; Matsuo, H.; Goto, I.; Kuroiwa, Y.; Sahashi, I.; Takahashi, A.; Shinoda, T.; Isobe, T.; Takagi, Y.

In: Biochemical and Biophysical Research Communications, Vol. 125, No. 2, 14.12.1984, p. 636-642.

Research output: Contribution to journalArticle

Sasaki, H, Sakaki, Y, Matsuo, H, Goto, I, Kuroiwa, Y, Sahashi, I, Takahashi, A, Shinoda, T, Isobe, T & Takagi, Y 1984, 'Diagnosis of familial amyloidotic polyneuropathy by recombinant DNA techniques', Biochemical and Biophysical Research Communications, vol. 125, no. 2, pp. 636-642. https://doi.org/10.1016/0006-291X(84)90586-2
Sasaki, Hiroyuki ; Sakaki, Y. ; Matsuo, H. ; Goto, I. ; Kuroiwa, Y. ; Sahashi, I. ; Takahashi, A. ; Shinoda, T. ; Isobe, T. ; Takagi, Y. / Diagnosis of familial amyloidotic polyneuropathy by recombinant DNA techniques. In: Biochemical and Biophysical Research Communications. 1984 ; Vol. 125, No. 2. pp. 636-642.
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