Prenatal detection of a gene for hereditary amyloidosis

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

Research output: Contribution to journalArticle

15 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)520-524
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume34
Issue number4
DOIs
StatePublished - 1989

Fingerprint

Familial Amyloidosis
Prealbumin
Serine
Genes
Fetus
Restriction Mapping
Inborn Genetic Diseases
Carpal Tunnel Syndrome
Polyneuropathies
Isoleucine
DNA
Peripheral Nervous System Diseases
Amyloidosis
Amino Acid Substitution
Southern Blotting
Fetal Blood
Cardiomyopathies
Oligonucleotides
Exons
Alleles

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Prenatal detection of a gene for hereditary amyloidosis. / Nichols, W. C.; Padilla, L. M.; Benson, Merrill.

In: American Journal of Medical Genetics, Vol. 34, No. 4, 1989, p. 520-524.

Research output: Contribution to journalArticle

Nichols, W. C. ; Padilla, L. M. ; Benson, Merrill. / Prenatal detection of a gene for hereditary amyloidosis. In: American Journal of Medical Genetics. 1989 ; Vol. 34, No. 4. pp. 520-524.
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