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

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

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17 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)460-466
Number of pages7
JournalBiochemical and Biophysical Research Communications
Issue number1
Publication statusPublished - Aug 31 1992

All Science Journal Classification (ASJC) codes

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology


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