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Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and
D R Jacobson1, D E McFarlin, I Kane
1Research Service, New York V.A. Medical Center, New York 10010.
Human Genetics
|May 1, 1992
Abstract:
Mutations in the protein transthyretin cause amyloidosis involving the heart, peripheral nerves, and other organs. A family from West Virginia developed an unusually aggressive form of widespread transthyretin amyloidosis. Single-strand conformation polymorphism analysis revealed a variant in the transthyretin gene, which was found on sequencing to be a T----C transversion at position 2 of codon 55, corresponding to a Leu----Pro substitution. The variant sequence was confirmed by restriction analysis and polymerase chain reaction (PCR)-primer introduced restriction analysis.