Prenatal detection of a gene for hereditary amyloidosis

W. C. Nichols, L. M. Padilla, M. D. Benson

Research output: Contribution to journalArticle

16 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)520-524
Number of pages5
JournalAmerican journal of medical genetics
Issue number4
StatePublished - Dec 1 1989


  • familial amyloidotic polyneuropathy (FAP)
  • Indiana/Swiss
  • polymerase chain reaction

ASJC Scopus subject areas

  • Genetics(clinical)

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