Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene
- 10 December 1990
- journal article
- Published by Wiley in FEBS Letters
- Vol. 276 (1-2), 75-77
- https://doi.org/10.1016/0014-5793(90)80510-p
Abstract
The amyloid protein in Finnish hereditary amyloidosis is a fragment of the actin-filament binding region of a variant gelsolin molecule. Here we demonstrate, using polymerase chain reaction and allele-specific oligonucleotide hybridization analyses of genomic DNA, a single base mutation (G654 → A654) in the gelsolin gene segment encoding the amyloid protein. The mutation is responsible for the expression of the variant (Asn187) gelsolin molecule in Finnish hereditary amyloidosis. The nucleotide substitution was found in all five unrelated patients with Finnish amyloidosis studied, but not in 45 unrelated control subjects. The mutation co-segregated with the disease phenotype in a family with Finnish amyloidosis. The results show that a single substitution in the gelsolin gene causes Finnish hereditary amyloidosis. The allele-specific oligonucleotide hybridization method provides a simple and accurate means of detecting this mutation.Keywords
This publication has 12 references indexed in Scilit:
- Amyloid protein in familial amyloidosis (Finnish type) is homologous to gelsolin, an actin-binding proteinBiochemical and Biophysical Research Communications, 1990
- Finnish hereditary amyloidosisFEBS Letters, 1990
- Human gene for torsion dystonia located on chromosome 9q32-q34Neuron, 1989
- Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA PolymeraseScience, 1988
- Plasma and cytoplasmic gelsolins are encoded by a single gene and contain a duplicated actin-binding domainNature, 1986
- Familial amyloidosis with cranial neuropathy and corneal lattice dystrophyNeurology, 1986
- Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy.Journal of Neurology, Neurosurgery & Psychiatry, 1979
- The isolation of structural genes from libraries of eucaryotic DNACell, 1978
- Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathyClinical Genetics, 1973
- Hereditary amyloidosisArthritis & Rheumatism, 1970