FAMILIAL AMYLOIDOTIC POLYNEUROPATHY DIAGNOSED BY CLONED HUMAN PREALBUMIN CDNA

被引：43

作者：

MITA, S

MAEDA, S

IDE, M

TSUZUKI, T

SHIMADA, K

ARAKI, S

机构：

[1] KUMAMOTO UNIV, SCH MED, DEPT INTERNAL MED 1, KUMAMOTO 860, JAPAN

[2] KUMAMOTO UNIV, SCH MED, DEPT BIOCHEM, KUMAMOTO 860, JAPAN

来源：

NEUROLOGY | 1986年 / 36卷 / 02期

关键词：

D O I：

10.1212/WNL.36.2.298

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A diagnosis of familial amyloidotic polyneuropathy (FAP) can be made by use of restriction endonuclease NsiI, 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, carrying one normal and one mutant gene.

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页码：298 / 301

页数：4

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