Sherrington R, Brynjolfsson J, Petursson H, Potter M, Dudleston K, Barraclough B, Wasmuth J, Dobbs M, Gurling H
Academic Department of Psychiatry, University College, (University of London), UK.
Nature. 1988 Nov 10;336(6195):164-7. doi: 10.1038/336164a0.
Schizophrenia is a common disorder with a life time prevalence of approximately 1 per cent. The illness often develops in young adults, who were previously normal, and is characterized by a constellation of symptoms including hallucinations and delusions (psychotic symptoms) and symptoms such as severely inappropriate emotional responses, a disorder of thinking and concentration, erratic behaviour as well as social and occupational deterioration. A considerable proportion of the variance in the liability to develop schizophrenia may be genetic, but segregation analysis, to establish a mode of transmission, has not produced a consistent result. One of these studies was carried out in Iceland and made use of the large family size and extensive geneaological information present in that country. Here we demonstrate genetic linkage of two DNA polymorphisms on the long arm of human chromosome 5 to schizophrenia in seven British and Icelandic families with multiple affected members. The results indicate the existence of a gene locus with a dominant schizophrenia-susceptibility allele. Inheritance of the allele in the families studied suggests that it may also predispose to psychiatric conditions such as schizophrenia spectrum disorders and a variety of other disorders. This report provides the first strong evidence for the involvement of a single gene in the causation of schizophrenia.
精神分裂症是一种常见疾病，终生患病率约为1%。这种疾病通常在原本正常的年轻人中发病，其特征是一系列症状，包括幻觉和妄想（精神病性症状）以及严重不适当的情绪反应、思维和注意力障碍、行为怪异以及社会和职业功能衰退等症状。患精神分裂症易感性的相当一部分变异可能是由基因决定的，但用于确定遗传模式的分离分析并未得出一致结果。其中一项研究在冰岛进行，利用了该国庞大的家庭规模和丰富的家谱信息。在此，我们在7个有多名患病成员的英国家庭和冰岛家庭中，证明了人类5号染色体长臂上的两个DNA多态性与精神分裂症存在基因连锁关系。结果表明存在一个带有显性精神分裂症易感等位基因的基因位点。在所研究家庭中该等位基因的遗传情况表明，它可能还会使人易患精神分裂症谱系障碍等精神疾病以及多种其他疾病。本报告首次有力证明了单个基因参与精神分裂症的病因。
