Pulver A E, Karayiorgou M, Wolyniec P S, Lasseter V K, Kasch L, Nestadt G, Antonarakis S, Housman D, Kazazian H H, Meyers D
Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore 21231.
Am J Med Genet. 1994 Mar 15;54(1):36-43. doi: 10.1002/ajmg.1320540108.
To identify genes responsible for the susceptibility for schizophrenia, and to test the hypothesis that schizophrenia is etiologically heterogeneous, we have studied 39 multiplex families from a systematic sample of schizophrenic patients. Using a complex autosomal dominant model, which considers only those with a diagnosis of schizophrenia or schizoaffective disorder as affected, a random search of the genome for detection of linkage was undertaken. Pairwise linkage analyses suggest a potential linkage (LRH = 34.7 or maximum lod score = 1.54) for one region (22q12-q13.1). Reanalyses, varying parameters in the dominant model, maximized the LRH at 660.7 (maximum lod score 2.82). This finding is of sufficient interest to warrant further investigation through collaborative studies.
为了鉴定与精神分裂症易感性相关的基因,并检验精神分裂症病因异质性这一假说,我们对来自精神分裂症患者系统样本的39个多重家庭进行了研究。采用一种复杂的常染色体显性模型,该模型仅将诊断为精神分裂症或分裂情感性障碍的个体视为患病个体,对基因组进行随机搜索以检测连锁。成对连锁分析表明一个区域(22q12 - q13.1)存在潜在连锁(LRH = 34.7或最大对数优势分数 = 1.54)。通过改变显性模型中的参数进行重新分析,使LRH最大化至660.7(最大对数优势分数2.82)。这一发现具有足够的研究价值,值得通过合作研究进行进一步调查。