A new transthyretin variant (Ser 24) associated with familial amyloid polyneuropathy.
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.
Uemichi
T
T
Department of Medicine, Indiana University School of Medicine, Indianapolis, USA.
Gertz
M A
MA
Benson
M D
MD
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
D003062:Codon; D011228:Prealbumin; D012694:Serine; D003596:Cytosine; D004247:DNA; D011392:Proline; D013941:Thymine