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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Reduced penetrance in human inherited disease
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Reduced penetrance in human inherited disease

机译：减少人类遗传疾病的外显率

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For many inherited diseases, the same mutation is not always expressed in all persons who carry it, moreover, when the mutation is expressed, it is not always expressed in the same way. These findings are the basis for the concepts of penetrance and expressivity. Understanding the factors that control penetrance of disease genes will provide insight into the fundamental disease processes and will help in genetic counselling. With the advancement of molecular genetics over the last few years, some of the underlying mechanisms of reduced penetrance have been elucidated. These include, mutation type, allelic variations in gene expression, epigenetic factors, gene-environment interplay, influence of age and sex, allele dosage, oligogenic and digenic inheritance mutations, modifier genes, copy number variations as well as the influence of additional gene variants and the effect of single nucleotide polymorphisms. The aim of this review is to clarify factors affecting gene penetrance as well as some of the underlying molecular mechanisms in some genetic disorders.
机译：对于许多遗传性疾病，并非总是在所有携带该突变的人中都表达相同的突变，而且，当表达突变时，并非总是以相同的方式表达。这些发现是渗透性和表现力概念的基础。了解控制疾病基因渗透性的因素将提供对基本疾病过程的洞察力，并有助于遗传咨询。随着近几年分子遗传学的发展，已经阐明了降低外显率的一些潜在机制。这些包括突变类型，基因表达的等位基因变异，表观遗传因素，基因与环境的相互作用，年龄和性别的影响，等位基因剂量，寡聚和双基因遗传突变，修饰基因，拷贝数变异以及其他基因变异的影响以及单核苷酸多态性的影响。这篇综述的目的是弄清影响基因渗透性的因素以及某些遗传疾病中的一些潜在分子机制。

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