Novel variant transthyretin gene (Ser50 to Ile) in familial cardiac amyloidosis

Hirofumi Nishi, Akinori Kimura, Haruhito Harada, Yasuo Hayashi, Motoomi Nakamura, Takehiko Sasazuki

研究成果: ジャーナルへの寄稿記事

16 引用 (Scopus)

抄録

We detected a point mutation in the transthyretin (TTR) gene in a patient with familial cardiac amyloidosis by using PCR-DCP (DNA conformation polymorphism) analysis that is based on the diversity in electrophoretic mobility of single-stranded DNAs and/or heteroduplex DNAs in PCR products. The PCR products of the transthyretin gene were denatured in the presence of formamide and electrophoresed in a non-denaturing polyacrylamide gel to detect an electrophoretic change due to a sequence variation. An unusual DNA fragment was visualized by silver staining in the PCR products of the exon 3 from the patient. Subsequent sequencing analysis revealed a T to A transversion and led to a replacement of Serby Ile at codon 50 of the TTR gene.

元の言語英語
ページ(範囲)460-466
ページ数7
ジャーナルBiochemical and Biophysical Research Communications
187
発行部数1
DOI
出版物ステータス出版済み - 8 31 1992

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Familial Amyloidosis
Prealbumin
Genes
Polymerase Chain Reaction
Nucleic Acid Heteroduplexes
Electrophoretic mobility
Single-Stranded DNA
DNA
Polymorphism
Nucleic Acid Conformation
Silver
Silver Staining
Conformations
Exons
Point Mutation
Codon

All Science Journal Classification (ASJC) codes

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology

これを引用

Novel variant transthyretin gene (Ser50 to Ile) in familial cardiac amyloidosis. / Nishi, Hirofumi; Kimura, Akinori; Harada, Haruhito; Hayashi, Yasuo; Nakamura, Motoomi; Sasazuki, Takehiko.

:: Biochemical and Biophysical Research Communications, 巻 187, 番号 1, 31.08.1992, p. 460-466.

研究成果: ジャーナルへの寄稿記事

Nishi, Hirofumi ; Kimura, Akinori ; Harada, Haruhito ; Hayashi, Yasuo ; Nakamura, Motoomi ; Sasazuki, Takehiko. / Novel variant transthyretin gene (Ser50 to Ile) in familial cardiac amyloidosis. :: Biochemical and Biophysical Research Communications. 1992 ; 巻 187, 番号 1. pp. 460-466.
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