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

研究成果: ジャーナルへの寄稿記事

27 引用 (Scopus)

抜粋

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.

元の言語英語
ページ(範囲)319-328
ページ数10
ジャーナルMolecular biology & medicine
3
発行部数4
出版物ステータス出版済み - 8 1 1986
外部発表Yes

    フィンガープリント

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics(clinical)

これを引用

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.