title: A new transthyretin variant (Ser 24) associated with familial amyloid polyneuropathy.
abstract: An American kindred with systemic amyloidosis presenting with carpal tunnel syndrome, peripheral neuropathy, and cardiomyopathy is reported. The transthyretin gene of a patient was analysed by direct DNA sequencing and both cytosine and thymine were present at the first base of codon 24. This new point mutation in exon 2 results in the amino acid substitution of serine for proline in the A-B loop of the transthyretin molecule. DNA testing for this mutant allele by restriction fragment length polymorphism analysis based on the polymerase chain reaction is described.
authors.affiliation: Department of Medicine, Indiana University School of Medicine, Indianapolis, USA.
authors.forename: T
authors.initials: T
authors.lastname: Uemichi
authors.forename: M A
authors.initials: MA
authors.lastname: Gertz
authors.forename: M D
authors.initials: MD
authors.lastname: Benson
mesh_terms: D000368:Aged; D017772:Amyloid Neuropathies / Q000150:complications / Q000235:genetics*; D009202:Cardiomyopathies / Q000150:complications / Q000235:genetics; D003062:Codon; D003596:Cytosine / Q000737:chemistry; D004247:DNA / Q000737:chemistry / Q000235:genetics; D005091:Exons; D005192:Family Health; D005260:Female; D014644:Genetic Variation; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011228:Prealbumin / Q000235:genetics*; D011392:Proline / Q000737:chemistry / Q000235:genetics; D017422:Sequence Analysis, DNA; D012694:Serine / Q000737:chemistry / Q000235:genetics; D013941:Thymine / Q000737:chemistry
chemical_list: D003062:Codon; D011228:Prealbumin; D012694:Serine; D003596:Cytosine; D004247:DNA; D011392:Proline; D013941:Thymine