St Clair D, Blackwood D, Muir W, Carothers A, Walker M, Spowart G, Gosden C, Evans H J
Department of Psychiatry, University of Edinburgh, Royal Edinburgh Hospital, UK.
Lancet. 1990 Jul 7;336(8706):13-6. doi: 10.1016/0140-6736(90)91520-k.
282 pedigrees in the MRC Cytogenetics Registry, Edinburgh, with familial autosomal anomalies were examined for the presence of associated mental illness. In one large pedigree there were 23 cases of mental and/or behavioural disorders meeting Research Diagnostic Criteria. 34 of the 77 family members available for cytogenetic analysis carried a balanced translocation t(1:11) (q43,q21). Psychiatric diagnoses had been recorded for 16 of the 34 members with the translocation compared with only 5 of the 43 without it. The lod scores (against chance linkage of the translocation with mental illness) were greatest when the mental disorders in the phenotype were restricted to schizophrenia, schizoaffective disorder, recurrent major depression, and adolescent conduct and emotional disorders. Although the mental illness in this family may not be typical of that in the general population, the findings suggest that the q21-22 region of chromosome 11 may be a promising area to examine for genes predisposing to major mental illness.
对爱丁堡医学研究委员会细胞遗传学登记处的282个伴有家族性常染色体异常的谱系进行了检查，以确定是否存在相关的精神疾病。在一个大型谱系中，有23例精神和/或行为障碍符合研究诊断标准。在可供细胞遗传学分析的77名家庭成员中，有34人携带平衡易位t(1:11)(q43,q21)。在这34名携带易位的成员中，有16人的精神科诊断记录在案，而在43名未携带易位的成员中，只有5人有记录。当表型中的精神障碍仅限于精神分裂症、分裂情感性障碍、复发性重度抑郁症以及青少年行为和情绪障碍时，连锁分析计分（反对易位与精神疾病的偶然连锁）最高。尽管这个家族中的精神疾病可能并非一般人群中的典型情况，但研究结果表明，11号染色体的q21 - 22区域可能是一个很有前景的区域，可用于检测导致主要精神疾病的基因。
