Familial amyloidotic polyneuropathy diagnosed by cloned human prealbumin cDNA

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

doi:10.1212/wnl.36.2.298

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 journal › Article › peer-review

40 Citations (Scopus)

Abstract

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 language	English
Pages (from-to)	298-301
Number of pages	4
Journal	Neurology
Volume	36
Issue number	2
DOIs	https://doi.org/10.1212/wnl.36.2.298
Publication status	Published - Feb 1986
Externally published	Yes

All Science Journal Classification (ASJC) codes

Clinical Neurology

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10.1212/wnl.36.2.298

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abstract = "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.",

author = "Shuji Mita and Shuichiro Maeda and Masami Ide and Teruhisa Tsuzuki and Kazunori Shimada and Shukuro Araki",

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AU - Mita, Shuji

AU - Maeda, Shuichiro

AU - Ide, Masami

AU - Tsuzuki, Teruhisa

AU - Shimada, Kazunori

AU - Araki, Shukuro

PY - 1986/2

Y1 - 1986/2

N2 - 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.

AB - 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.

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Familial amyloidotic polyneuropathy diagnosed by cloned human prealbumin cDNA

Abstract

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