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伴有精神症状的复杂遗传性疾病

[Complex hereditary diseases with psychiatric symptoms].

作者信息

Wetterberg L

机构信息

Avdelning Asgård sykehus, Regionsykehuset, Tromsø.

出版信息

Tidsskr Nor Laegeforen. 1999 Feb 28;119(6):839-45.

Abstract

Family and adoption studies indicate that genetic factors play a role in the development of many psychiatric disorders. A variable number of possible interacting genes giving a predisposition to the diseases is likely. The genetic dissection has been hampered by genetic complexity as well as by difficulties in defining the phenotypes. Genetic mapping efforts using sib pairs, twins and individual large families have revealed preliminary or tentative evidence of susceptibility loci for a number of psychiatric disorders. Illnesses described in this article include the prion disease familial fatal insomnia (FFI), alcoholism, anorexia nervosa, autism, bipolar affective disorder, dyslexia, enuresis nocturna, epilepsia, obsessive-compulsive disorders (OCD), schizophrenia, and the dementias, Alzheimer's disease and frontal lobe dementia. The genes and proteins related to the newly discovered transmitter in the central nervous system, nitric oxide (NO), and its genes and proteins are also reviewed. The number of mapped human genes now exceeds 30,000 of the estimated total number of 60,000 to 100,000 genes. This rapid development will facilitate gene mapping and efforts to isolate and identify the genes responsible for symptom susceptibility in many of the aetiologically unclear psychiatric diseases with complex genetic origin.

摘要

家族和领养研究表明,遗传因素在多种精神疾病的发展中起作用。可能有数量不等的相互作用基因导致易患这些疾病。遗传剖析一直受到遗传复杂性以及定义表型的困难的阻碍。利用同胞对、双胞胎和单个大家庭进行的基因定位研究已经揭示了一些精神疾病易感基因座的初步或试探性证据。本文所述的疾病包括朊病毒病家族性致死性失眠症(FFI)、酗酒、神经性厌食症、自闭症、双相情感障碍、诵读困难、夜尿症、癫痫、强迫症(OCD)、精神分裂症以及痴呆症、阿尔茨海默病和额叶痴呆症。还综述了与中枢神经系统新发现的递质一氧化氮(NO)相关的基因和蛋白质及其基因和蛋白质。现已定位的人类基因数量超过了估计总数6万至10万个基因中的3万个。这一快速发展将有助于基因定位,并有助于在许多病因不明、具有复杂遗传起源的精神疾病中分离和鉴定导致症状易感性的基因。

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