title: Prenatal detection of a gene for hereditary amyloidosis.
abstract: Autosomal dominant amyloidosis of the Indiana/Swiss type (familial amyloidotic polyneuropathy type II) is a late-onset disorder characterized by carpal tunnel syndrome, peripheral neuropathy, vitreous opacities, and cardiomyopathy. The genetic basis of the disease is a variant of plasma prealbumin (transthyretin) which has a serine for isoleucine substitution at amino acid 84 of the 127 residue prealbumin molecule. Using the polymerase chain reaction (PCR), we amplified exon 3 of the prealbumin gene in DNA extracted from amniocytes of a fetus at-risk of carrying the serine-84 prealbumin gene. By allele-specific oligonucleotide analysis as well as restriction enzyme analysis of the amplification products it was determined that the fetus was a carrier of the serine-84 variant gene. This finding was confirmed at birth by Southern blot analysis using DNA obtained from cord blood. This is the first report of the prenatal detection of a gene for hereditary amyloidosis.
authors.affiliation: Department of Medicine, Indiana University School of Medicine, Indianapolis.
authors.forename: W C
authors.initials: WC
authors.lastname: Nichols
authors.forename: L M
authors.initials: LM
authors.lastname: Padilla
authors.forename: M D
authors.initials: MD
authors.lastname: Benson
mesh_terms: D000686:Amyloidosis / Q000175:diagnosis / Q000235:genetics*; D015139:Blotting, Southern; D005091:Exons; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics*; D005796:Genes; D006801:Humans; D016133:Polymerase Chain Reaction; D011228:Prealbumin / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012694:Serine / Q000235:genetics
chemical_list: D011228:Prealbumin; D012694:Serine