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染色体畸变与精神分裂症。常染色体。

Chromosomal aberrations and schizophrenia. Autosomes.

作者信息

Bassett A S

机构信息

Department of Psychiatry, University of Toronto, Ontario, Canada.

出版信息

Br J Psychiatry. 1992 Sep;161:323-34. doi: 10.1192/bjp.161.3.323.

Abstract

Chromosomal aberrations associated with schizophrenic disorders may suggest regions in which to focus a search for genes predisposing to schizophrenia by a linkage strategy. As for other genetic illnesses, chromosomal abnormalities may also provide useful tools for subsequent physical mapping, fine localisation, and isolation of important susceptibility genes. Identification of several chromosomal aberrations may be especially important, given the unknown pathophysiology, the paucity of known brain genes, and the probable genetic heterogeneity of schizophrenia and manic-depression. However, because psychiatric disorders are common and inherited in a complex manner, researchers must use caution when drawing inferences about associations with chromosomal aberrations. Reported abnormalities involving autosomes (chromosomes 1-22) associated with psychotic disorders are reviewed. Their relevance to linkage studies localising genes for schizophrenia was estimated by standardised criteria for specificity, diagnosis, family history, and overall weight of evidence. Four 'possibly relevant' chromosomal regions were identified: 5q, 11q, 18q, and 19p. This paper outlines strategies for future studies to detect new chromosomal aberrations associated with major psychotic disorders that may be relevant to isolating the genes for schizophrenia.

摘要

与精神分裂症相关的染色体畸变可能提示了一些区域,通过连锁策略可在这些区域集中寻找导致精神分裂症的易感基因。对于其他遗传性疾病而言,染色体异常也可能为后续的物理图谱构建、精细定位以及重要易感基因的分离提供有用的工具。鉴于精神分裂症和躁郁症的病理生理学尚不清楚、已知的脑基因匮乏以及可能存在的遗传异质性,识别几种染色体畸变可能尤为重要。然而,由于精神疾病很常见且以复杂的方式遗传,研究人员在推断与染色体畸变的关联时必须谨慎。本文综述了报道的与精神障碍相关的常染色体(1 - 22号染色体)异常情况。通过特异性、诊断、家族史以及证据总体权重的标准化标准,评估了它们与精神分裂症基因定位连锁研究的相关性。确定了四个“可能相关”的染色体区域:5q、11q、18q和19p。本文概述了未来研究的策略,以检测与主要精神障碍相关的新的染色体畸变,这些畸变可能与分离精神分裂症基因相关。

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