Molecular detection of carriers of hereditary amyloidosis in a Swedish-American family

M. R. Wallace, P. M. Conneally, G. L. Long, M. D. Benson

Research output: Contribution to journalArticle

12 Scopus citations

Abstract

Autosomal dominant amyloidosis, also known as familial amyloidotic polyneuropathy (FAP), is a late-onset disorder associated with variants of the protein prealbumin. In FAP Type I, the variant contains a single amino acid substitution at position 30 in the subunit. This substitution corresponds to a single base change in the gene, coincidentally creating a new site for the restriction enzyme NsiI. This change is detectable in the DNA of gene carriers with restriction fragment length polymorphism (RFLP) methods. A well-characterized American family of Swedish origin was studied by this method using a prealbumin cDNA. The RFLP data were found to correlate with previous biochemical characterization of the prealbumin in this family, indicating that this test represents a reliable way to directly detect the DNA mutation responsible for the condition. This test can be used for preclinical diagnosis of gene carriers, including prenatal diagnosis.

Original languageEnglish (US)
Pages (from-to)335-341
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume25
Issue number2
DOIs
StatePublished - Jan 1 1986

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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