Familial amyloidotic polyneuropathy diagnosed by cloned human prealbumin cDNA

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

Research output: Contribution to journalArticlepeer-review

44 Citations (Scopus)


A diagnosis of familial amyloidotic polyneuropathy (FAP) can be made by use of restriction endonuclease Nsil, 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 Nsil 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.

Original languageEnglish
Pages (from-to)298-301
Number of pages4
Issue number2
Publication statusPublished - Feb 1986
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Clinical Neurology


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