Diagnosis of familial amyloidotic polyneuropathy by recombinant DNA techniques

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

研究成果: Contribution to journalArticle査読

85 被引用数 (Scopus)

抄録

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.

本文言語英語
ページ(範囲)636-642
ページ数7
ジャーナルBiochemical and Biophysical Research Communications
125
2
DOI
出版ステータス出版済み - 12 14 1984

All Science Journal Classification (ASJC) codes

  • 生物理学
  • 生化学
  • 分子生物学
  • 細胞生物学

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