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染色体畸变与双相情感障碍。

Chromosomal aberrations and bipolar affective disorder.

作者信息

Craddock N, Owen M

机构信息

Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff.

出版信息

Br J Psychiatry. 1994 Apr;164(4):507-12. doi: 10.1192/bjp.164.4.507.

Abstract

Chromosomal abnormalities associated with bipolar disorder may help in the localisation of susceptibility genes for bipolar illness by pinpointing 'candidate' regions of the genome for further study using molecular genetic methods. We review descriptions of chromosomal abnormalities in association with bipolar and related affective disorders and evaluate their relevance for localising susceptibility genes for bipolar disorder, using standardised criteria. We found 28 reports. We identified four genomic regions of potential interest: 11q21-25; 15q11-13; chromosome 21;Xq28. It is important that clinicians are able to recognise patients who may have chromosome abnormalities which could help in the localisation of susceptibility genes for psychiatric disorders. We suggest referral for specialist investigation and karyotyping, to a psychiatric genetics research group, of any patient with functional psychosis and one or more of the following: (a) a strong family history of functional psychosis; (b) mental retardation; (c) another disease known to be caused by a single gene; or (d) congenital abnormalities.

摘要

与双相情感障碍相关的染色体异常,可能通过精确确定基因组中的“候选”区域,以便使用分子遗传学方法进行进一步研究,从而有助于双相情感障碍易感基因的定位。我们使用标准化标准,回顾了与双相情感障碍及相关情感障碍相关的染色体异常描述,并评估了它们与双相情感障碍易感基因定位的相关性。我们找到了28份报告。我们确定了四个潜在感兴趣的基因组区域:11q21 - 25;15q11 - 13;21号染色体;Xq28。临床医生能够识别可能存在染色体异常的患者非常重要,这有助于精神疾病易感基因的定位。我们建议,对于任何患有功能性精神病且有以下一项或多项情况的患者,转诊至精神科遗传学研究组进行专科检查和核型分析:(a) 功能性精神病家族史强烈;(b) 智力迟钝;(c) 已知由单基因引起的另一种疾病;或(d) 先天性异常。

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