Structure of the mutant prealbumin gene responsible for familial amyloidotic polyneuropathy.

K. Yoshioka, Hiroyuki Sasaki, N. Yoshioka, H. Furuya, T. Harada, S. Kito, Y. Sakaki

Research output: Contribution to journalArticle

27 Citations (Scopus)

Abstract

Familial amyloidotic polyneuropathy (FAP) is a genetic disorder showing autosomal dominant inheritance. Amyloid fibrils of FAP patients from various origins have been shown to contain a prealbumin variant with Val30----Met30 substitution as a major component. However, the structure of the prealbumin gene responsible for the variation has not been characterized. We determined the complete nucleotide sequence of the prealbumin gene from a patient with the Japanese type of FAP. In comparison with a normal prealbumin gene sequence, the patient's gene was found to be carrying seven base substitutions. The substitution responsible for the Val----Met change was found in exon 2, as expected, and the others were in introns. Hybridization analyses of normal and FAP patient DNAs showed that the base substitution in exon 2 was specific for FAP but the others were polymorphic changes. It was concluded that the mutation responsible for the Val----Met change is the only base change specific for FAP in the prealbumin gene.

Original languageEnglish
Pages (from-to)319-328
Number of pages10
JournalMolecular biology & medicine
Volume3
Issue number4
Publication statusPublished - Aug 1 1986
Externally publishedYes

Fingerprint

Prealbumin
Polyneuropathies
Genes
Exons
Inborn Genetic Diseases
Amyloid
Introns
Mutation
DNA

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics(clinical)

Cite this

Yoshioka, K., Sasaki, H., Yoshioka, N., Furuya, H., Harada, T., Kito, S., & Sakaki, Y. (1986). Structure of the mutant prealbumin gene responsible for familial amyloidotic polyneuropathy. Molecular biology & medicine, 3(4), 319-328.

Structure of the mutant prealbumin gene responsible for familial amyloidotic polyneuropathy. / Yoshioka, K.; Sasaki, Hiroyuki; Yoshioka, N.; Furuya, H.; Harada, T.; Kito, S.; Sakaki, Y.

In: Molecular biology & medicine, Vol. 3, No. 4, 01.08.1986, p. 319-328.

Research output: Contribution to journalArticle

Yoshioka, K, Sasaki, H, Yoshioka, N, Furuya, H, Harada, T, Kito, S & Sakaki, Y 1986, 'Structure of the mutant prealbumin gene responsible for familial amyloidotic polyneuropathy.', Molecular biology & medicine, vol. 3, no. 4, pp. 319-328.
Yoshioka, K. ; Sasaki, Hiroyuki ; Yoshioka, N. ; Furuya, H. ; Harada, T. ; Kito, S. ; Sakaki, Y. / Structure of the mutant prealbumin gene responsible for familial amyloidotic polyneuropathy. In: Molecular biology & medicine. 1986 ; Vol. 3, No. 4. pp. 319-328.
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