Prenatal detection of a gene for hereditary amyloidosis.
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.
Nichols
W C
WC
Department of Medicine, Indiana University School of Medicine, Indianapolis.
Padilla
L M
LM
Benson
M D
MD
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
D011228:Prealbumin; D012694:Serine