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    Biochem Biophys Res Commun. 1992 Aug 31;187(1):460-6.

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

    Nishi H, Kimura A, Harada H, Hayashi Y, Nakamura M, Sasazuki T.

    Source

    Department of Genetics, Kyushu University, Fukuoka, Japan.

    Abstract

    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 Ser by Ile at codon 50 of the TTR gene.

    PMID:
    1520336
    [PubMed - indexed for MEDLINE]

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