Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis

M. R. Wallace, F. E. Dwulet, E. C. Williams, P. M. Conneally, Merrill Benson

Research output: Contribution to journalArticle

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Abstract

In the last several years, five human plasma prealbumin (transthyretin) variants have been discovered in association with hereditary amyloidosis, a late-onset fatal disorder. We recently studied a patient of German descent with peripheral neuropathy and bowel dysfunction. Biopsied rectal tissue contained amyloid that stained with anti-human prealbumin. Amino acid sequence analysis of the patient's plasma prealbumin revealed both normal and variant prealbumin molecules, with the variant containing a tyrosine at position 77 instead of serine. We predicted a single nucleotide change in codon 77 of the variant prealbumin gene, which we then detected in the patient's DNA using the restriction enzyme SspI and a specifically tailored genomic prealbumin probe. DNA tests of other family members identified several gene carriers. This is the sixth prealbumin variant implicated in amyloidosis, and adds to the accumulating evidence that the prealbumin amyloidoses are more varied and prevalent than previously thought.

Original languageEnglish
Pages (from-to)189-193
Number of pages5
JournalJournal of Clinical Investigation
Volume81
Issue number1
StatePublished - 1988

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Familial Amyloidosis
Prealbumin
DNA
Genes
Amyloidosis
DNA Restriction Enzymes
Protein Sequence Analysis
Peripheral Nervous System Diseases
Amyloid
Codon
Serine
Tyrosine
Nucleotides

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis. / Wallace, M. R.; Dwulet, F. E.; Williams, E. C.; Conneally, P. M.; Benson, Merrill.

In: Journal of Clinical Investigation, Vol. 81, No. 1, 1988, p. 189-193.

Research output: Contribution to journalArticle

Wallace, M. R. ; Dwulet, F. E. ; Williams, E. C. ; Conneally, P. M. ; Benson, Merrill. / Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis. In: Journal of Clinical Investigation. 1988 ; Vol. 81, No. 1. pp. 189-193.
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