Identification of a novel non-amyloidogenic transthyretin polymorphism (His 74) in the German population
1994; Taylor & Francis; Volume: 1; Issue: 3 Linguagem: Inglês
10.3109/13506129409148445
ISSN1744-2818
AutoresTomoyuki Uemichi, Juris J. Liepnieks, Klaus Altland, Merrill D. Benson,
Tópico(s)Peptidase Inhibition and Analysis
ResumoWe examined the transthyretin gene of a German individual by direct DNA sequencing and found a guanine to cytosine transversion at the first base ofcodon 74 which resulted in a replacement ofhistidinefor aspartic acid. This mutation was confirmed by restriction fragment length polymorphism analysis using the polymerase chain reaction and the variant protein was proven to exist in plasma by sequence analysis of purified transthyretin. This variant transthyretin which was found in 7 of 4000 individuals by isoelectric focusing gel analysis is considered to be a relatively common polymorphism in the German population. None of the 7 individuals has a family history of amyloidosis or thyroid disorder.
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