Familial amyloidotic polyneuropathy diagnosed by cloned human prealbumin cDNA
- 1 February 1986
- journal article
- research article
- Published by Wolters Kluwer Health in Neurology
- Vol. 36 (2), 298
- https://doi.org/10.1212/wnl.36.2.298
Abstract
A diagnosis of familial amyloidotic polyneuropathy (FAP) can be made by use of restriction endonuclease Nsi I, a cloned human prealbumin cDNA and Southern blot procedures. Digests of DNAs from 10 disease-free individuals showed two bands (6.6 kb and 3.2 kb) complementary to a human prealbumin cDNA, whereas digests from 11 individuals with FAP exhibited two additional bands (5.1 kb and 1.5 kb). We interpret these changes in pattern to be the result of a restriction site for NsiI located in the altered codon and associated with the mutant prealbumin gene. All these individuals with FAP were heterozygous for the prealbumin gene, carrying one normal and one mutant gene.This publication has 4 references indexed in Scilit:
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- Radioimmunoassay for detecting abnormal prealbumin in the serum for diagnosis of familial amyloidotic polyneuropathy (Japanese type)Biochemical and Biophysical Research Communications, 1984
- Identification of a prealbumin variant in the serum of a Japanese patient with familial amyloidotic polyneuropathyBiochemical and Biophysical Research Communications, 1984
- A polymorphic DNA marker genetically linked to Huntington's diseaseNature, 1983