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Updated: Aug 16, 2026

Generation of Native, Untagged Huntingtin Exon1 Monomer and Fibrils Using a SUMO Fusion Strategy
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Generation of Native, Untagged Huntingtin Exon1 Monomer and Fibrils Using a SUMO Fusion Strategy

Published on: June 27, 2018

对亨廷顿病的症状前检测

S J Bird

    JAMA
    |June 14, 1985
    PubMed
    概括

    现在可以获得亨廷顿病 (HD) 的DNA标记物,使得症状前测试成为可能. 负责任的发展需要仔细考虑道德问题,并为处于风险中的个人提供强有力的支持系统.

    关键词:
    遗传学和生殖生殖学

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    Huntington Disease l: Introduction01:21

    Huntington Disease l: Introduction

    Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...