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 |
| Publication status | Published - Jan 1 1986 |
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All Science Journal Classification (ASJC) codes
- Clinical Neurology
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Familial amyloidotic polyneuropathy diagnosed by cloned human prealbumin cDNA. / Mita, Shuji; Maeda, Shuichiro; Ide, Masami; Tsuzuki, Teruhisa; Shimada, Kazunori; Araki, Shukuro.
In: Neurology, Vol. 36, No. 2, 01.01.1986, p. 298-301.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Familial amyloidotic polyneuropathy diagnosed by cloned human prealbumin cDNA
AU - Mita, Shuji
AU - Maeda, Shuichiro
AU - Ide, Masami
AU - Tsuzuki, Teruhisa
AU - Shimada, Kazunori
AU - Araki, Shukuro
PY - 1986/1/1
Y1 - 1986/1/1
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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UR - http://www.scopus.com/inward/citedby.url?scp=0022653148&partnerID=8YFLogxK
M3 - Article
C2 - 3003621
AN - SCOPUS:0022653148
VL - 36
SP - 298
EP - 301
JO - Neurology
JF - Neurology
SN - 0028-3878
IS - 2
ER -