A DNA test for Indiana/Swiss hereditary amyloidosis (FAP II)

M. R. Wallace, P. M. Conneally, Merrill Benson

Research output: Contribution to journalArticle

28 Citations (Scopus)

Abstract

Autosomal dominant amyloidosis of the Indiana/Swiss type is a late-onset disorder characterized by carpal tunnel syndrome, progressive peripheral neuropathy, vitreous deposits, and cardiomyopathy. This disorder was originally described in a large Indiana family of Swiss descent and is also known as familial amyloidotic polyneuropathy (FAP) type II. In the Indiana family, 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. We predicted that the corresponding mutation in the prealbumin gene consisted of a T-to-G change in codon 84 (which created an AluI recognition site) and then demonstrated the extra AluI site in the DNA of patients by Southern blot analysis with a genomic prealbumin probe. This verifies the protein findings at the DNA level and provides a direct, reliable DNA test for the Ser-84 prealbumin gene associated with Indiana/Swiss hereditary amyloidosis.

Original languageEnglish
Pages (from-to)182-187
Number of pages6
JournalAmerican Journal of Human Genetics
Volume43
Issue number2
StatePublished - 1988

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Familial Amyloidosis
Prealbumin
Polyneuropathies
DNA
Inborn Genetic Diseases
Carpal Tunnel Syndrome
Isoleucine
Peripheral Nervous System Diseases
Amyloidosis
Amino Acid Substitution
Southern Blotting
Cardiomyopathies
Codon
Serine
Genes
Mutation

ASJC Scopus subject areas

  • Genetics

Cite this

A DNA test for Indiana/Swiss hereditary amyloidosis (FAP II). / Wallace, M. R.; Conneally, P. M.; Benson, Merrill.

In: American Journal of Human Genetics, Vol. 43, No. 2, 1988, p. 182-187.

Research output: Contribution to journalArticle

Wallace, M. R. ; Conneally, P. M. ; Benson, Merrill. / A DNA test for Indiana/Swiss hereditary amyloidosis (FAP II). In: American Journal of Human Genetics. 1988 ; Vol. 43, No. 2. pp. 182-187.
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