Finnish type of familial amyloidosis: Cosegregation of Asp sub(187) arrow right Asn mutation of gelsolin with the disease in three large families

Familial amyloidosis of Finnish type (FAF) is one of the familial amyloidotic polyneuropathy (FAP) syndromes, a group of inherited disorders characterized by extracellular accumulation of amyloid and by clinical symptoms and signs of polyneuropathy. In this study allele-specific oligonucleotides wer...

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Bibliographic Details
Published in:American journal of human genetics 1991-01, Vol.49 (3), p.522-528
Main Authors: Hiltunen, T, Kiuru, S, Hongell, V, Helioe, T, Palo, J, Peltonen, L
Format: Article
Language:English
Subjects:
gelsolin
genes
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Summary:Familial amyloidosis of Finnish type (FAF) is one of the familial amyloidotic polyneuropathy (FAP) syndromes, a group of inherited disorders characterized by extracellular accumulation of amyloid and by clinical symptoms and signs of polyneuropathy. In this study allele-specific oligonucleotides were used to analyze three large FAF families with multiple affected individuals as well as healthy family members. We found the corresponding G-A mutation in nucleotide 654 of the plasma gelsolin gene to cosegregate with the disease. The result was confirmed by sequencing and strongly suggests that the mutation has caused all the FAF cases of these families.
ISSN:0002-9297