PDF(Pubmed)
Abstract：
Movement disorders comprise a clinically, pathologically, and genetically heterogeneous group of diseases associated with the phenomenon of reduced penetrance. Penetrance refers to the likelihood that a clinical condition will occur when a particular genotype is present. Elucidating the cause of reduced penetrance may contribute to more personalized medicine by identifying genetic factors that may prevent individuals from developing disease. Therefore, patient material becomes an irreplaceable resource in this approach. It is needed to identify genetic modifiers of the disease in the first place and to subsequently elucidate underlying mechanisms in endogenous human cell models that provide the entire genetic background.
摘要：
运动障碍包括临床上，病理上,与外显率降低相关的遗传异质性疾病组。Penetrance是指当存在特定基因型时发生临床状况的可能性。通过识别可能阻止个体发展疾病的遗传因素，阐明外显率降低的原因可能有助于更个性化的医疗。因此,在这种方法中，病人的材料成为不可替代的资源。首先需要鉴定疾病的遗传修饰剂，然后阐明提供整个遗传背景的内源性人细胞模型中的潜在机制。
