Genetics of neuropsychiatric disease

S. Bruno, N. Lahiri
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Abstract

To better understand the intricacies of genetic influences on neuropsychiatric disease, it is important first to have a grounding in the models of human inheritance and current diagnostic techniques. This chapter covers the fundamentals of genetic disorders, giving insights into chromosomal, single-gene, and mitochondrial disorders. Moreover, it explores the changing applications of genomic technologies, such as whole exome and whole genome sequencing, through the lens of their implications for neuropsychiatry. Clinical examples are provided to give an idea of the genetic underpinnings of Alzheimer’s disease, Parkinson’s disease, and other familiar disorders.
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神经精神疾病的遗传学
为了更好地理解遗传对神经精神疾病影响的复杂性,重要的是首先要在人类遗传模型和当前诊断技术方面有一个基础。本章涵盖了遗传疾病的基本原理,给出了对染色体,单基因和线粒体疾病的见解。此外,它还探讨了基因组技术的不断变化的应用,如全外显子组和全基因组测序,通过它们对神经精神病学的影响。临床实例提供了一个想法的遗传基础的阿尔茨海默病,帕金森氏病,和其他熟悉的疾病。
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