CODON-178 MUTATION OF THE HUMAN PRION PROTEIN GENE IN A GERMAN FAMILY (BACKER FAMILY) - SEQUENCING DATA FROM 72-YEAR-OLD CELLOIDIN-EMBEDDED BRAIN-TISSUE

被引：37

作者：

KRETZSCHMAR, HA ^{[1
]}

NEUMANN, M ^{[1
]}

STAVROU, D ^{[1
]}

机构：

[1] UNIV HAMBURG,DEPT NEUROPATHOL,HAMBURG,GERMANY

来源：

ACTA NEUROPATHOLOGICA | 1995年 / 89卷 / 01期

关键词：

PRION; CREUTZFELDT-JAKOB DISEASE; CODON; 178; MUTATION; HUMAN PRION PROTEIN GENE;

D O I：

10.1007/BF00294264

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Familial Creutzfeldt-Jakob disease was first described in a family from northern Germany in the 1920s (Backer family). PCR amplification of DNA extracted from brain tissue embedded in celloidin 72 years ago shows a GAC to AAC substitution at codon 178 of the prion protein gene. This mutation is associated with fatal familial insomnia and familial Creutzfeldt-Jakob disease in a number of families of diverse ethnic background.

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页码：96 / 98

页数：3

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