Delisi L E, Crow T J, Davies K E, Terwilliger J D, Ott J, Ram R, Flint T, Boccio A
Department of Psychiatry, Health Sciences Center, SUNY Stony Brook 11794.
Br J Psychiatry. 1991 May;158:630-4. doi: 10.1192/bjp.158.5.630.
The hypothesis that at least a subgroup of familial cases of schizophrenia could be due to a genetic defect on the X chromosome is supported by the observation of an excess of X-chromosome aneuploidies (XXX and XXY) among populations of patients with psychosis. The distal long arm, Xq27-q28, is a candidate region where linkage has been claimed to manic-depressive disorder and a fragile site has been associated with schizophrenia spectrum disorders. The present study excluded linkage to a large part of this region using four polymorphic probes and multipoint lod-score analysis in 10 families with multiple members with schizophrenia.
精神病患者群体中X染色体非整倍体(XXX和XXY)过多这一观察结果支持了以下假说:至少一部分家族性精神分裂症病例可能归因于X染色体上的基因缺陷。X染色体长臂远端Xq27-q28是一个候选区域,据称该区域与躁郁症存在连锁关系,且一个脆性位点与精神分裂症谱系障碍有关。本研究使用四个多态性探针和多点对数优势计分分析,对10个有多名精神分裂症患者的家族进行研究,排除了该区域大部分区域的连锁关系。