A second transthyretin mutation at position 33 (Leu/Phe) associated with familial amyloidotic polyneuropathy.

Abstract excerpt

Genomic DNA was isolated from peripheral blood lymphocytes of a patient with familial amyloidotic polyneuropathy (FAP) and the transthyretin (TTR) gene examined for sequence mutations. Polymerase chain reaction was used to asymmetrically amplify the TTR exons. Direct DNA sequencing of the PCR product revealed a C for T mutation at the first base of codon 33 located in exon 2 of one transthyretin gene. This...

Topics

• Amyloidosis
• Base Sequence
• Exons
• Female
• Hereditary Sensory and Autonomic Neuropathies
• Humans
• Male
• Middle Aged
• Molecular Sequence Data
• Mutation
• Polymerase Chain Reaction