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

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

Research output: Contribution to journalArticle

12 Citations (Scopus)

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
Pages (from-to)335-341
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume25
Issue number2
StatePublished - 1986

Fingerprint

Familial Amyloidosis
Prealbumin
Polyneuropathies
Restriction Fragment Length Polymorphisms
Genes
DNA
Amyloidosis
Amino Acid Substitution
Prenatal Diagnosis
Complementary DNA
Mutation
Enzymes
Proteins

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Molecular detection of carriers of hereditary amyloidosis in a Swedish-American family. / Wallace, M. R.; Conneally, P. M.; Long, G. L.; Benson, Merrill.

In: American Journal of Medical Genetics, Vol. 25, No. 2, 1986, p. 335-341.

Research output: Contribution to journalArticle

Wallace, M. R. ; Conneally, P. M. ; Long, G. L. ; Benson, Merrill. / Molecular detection of carriers of hereditary amyloidosis in a Swedish-American family. In: American Journal of Medical Genetics. 1986 ; Vol. 25, No. 2. pp. 335-341.
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