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Updated: Sep 10, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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在原发性侧面硬化症 (PLS) 患者中,全基因组测序分析揭示了神经疾病引起的基因突变

Arianna Manini1, Alberto Brusati2, Maurizio Grassano3,4

  • 1Department of Pathophysiology and Transplantation, "Dino Ferrari" Center, Università Degli Studi Di Milano, Milan, Italy.

Journal of neurology
|August 22, 2025
PubMed
概括

基因分析显示13.7%的原发性侧面硬化症患者有突变,将PLS与其他神经系统疾病联系起来. 这凸显了PLS诊断基因检测的重要性.

关键词:
抗氧化症遗传性线粒体疾病运动神经元疾病神经退行性疾病周围神经系统疾病主要侧面硬化序列分析性截肢症串联重复序列全基因组测序

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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