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Molecular basis of genetic neuropsychiatric disorders.

机译:遗传性神经精神疾病的分子基础。

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The past decade has seen tremendous advances in our understanding of the molecular and genetic basis of many neuropsychiatric disorders. Although the genetic aberrations that lead to these syndromes have been identified in many cases, not much is known about specific gene products and their function. This article reviews the molecular basis of well-known neurogenetic disorders. The syndromes discussed here follow a Mendelian pattern of inheritance and are predominantly single-gene disorders; however, most childhood and adolescent psychiatric disorders are polygenic in nature. This genetic complexity and heterogeneity has made it difficult to identify the genes involved in their etiology. Identification of genetic and environmental risk factors involved in the etiology of complex disorders, such as autism, will help in the discovery of medications that can ameliorate the symptoms.
机译:在过去的十年中,我们对许多神经精神疾病的分子和遗传基础的理解有了长足的进步。尽管在许多情况下已经发现了导致这些综合症的遗传畸变,但对特定基因产物及其功能的了解还很少。本文介绍了众所周知的神经遗传性疾病的分子基础。这里讨论的综合征遵循孟德尔遗传模式,主要是单基因疾病。然而,大多数儿童期和青少年期的精神疾病本质上是多基因的。这种遗传上的复杂性和异质性使得很难确定其病因中涉及的基因。识别与复杂疾病(例如自闭症)的病因有关的遗传和环境风险因素,将有助于发现可以改善症状的药物。

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