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NEUROLOGY 1986;36:298
© 1986 American Academy of Neurology

Familial amyloidotic polyneuropathy diagnosed by cloned human prealbumin cDNA

Shuji Mita, MD, Shuichiro Maeda, MD, Masami Ide, MD, Teruhisa Tsuzuki, PhD, Kazunori Shimada, MD and Shukuro Araki, MD

Department of Biochemistry and the First Department of Internal Medicine, Kumamoto University Medical School, Honjo, Kumamoto, Japan.

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.

Address correspondence and reprint requests to Dr. Araki, First Department of Internal Medicine, Kumamoto University Medical School, Honjo, Kumamoto 860, Japan.

Supported in part by a Grant-in-Aid for Special Project Research of Selected Intractable Neurological Disorders from the Ministry of Education, Science and Culture, Japan.

Accepted for publication June 6, 1985.




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