Prion disease genetics

被引：230

作者：

Mead, S ^{[1
]}

机构：

[1] Inst Neurol, MRC Pr Unit, Dept Neurodegenerat Dis, London WC1N 3BG, England

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2006年 / 14卷 / 03期

基金：

英国医学研究理事会;

关键词：

prion; genetics; CJD;

D O I：

10.1038/sj.ejhg.5201544

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Prion diseases have stimulated intense scientific scrutiny since it was proposed that the infectious agent was devoid of nucleic acid. Despite this finding, genetics has played a key role in understanding the pathobiology and clinical aspects of prion disease through the effects of a series of polymorphisms and mutations in the prion protein gene (PRNP). The advent of variant Creutzfeldt-Jakob disease has confirmed one of the most powerful human genetic susceptibility factors, as all tested patients have an identical genotype at polymorphic codon 129 of PRNP. This review will also consider the accrued reports of inherited prion disease and attempt a genotype-phenotype correlation. The prospects for detection of novel genetic susceptibility factors using mouse models and human genetic association studies will be explored.

引用

页码：273 / 281

页数：9

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