九个家系中精神分裂症与五个多巴胺受体基因的连锁分析。
Linkage analysis of schizophrenia with five dopamine receptor genes in nine pedigrees.
作者信息
Coon H, Byerley W, Holik J, Hoff M, Myles-Worsley M, Lannfelt L, Sokoloff P, Schwartz J C, Waldo M, Freedman R
机构信息
Department of Psychiatry, University of Utah Medical School, Salt Lake City 84132.
出版信息
Am J Hum Genet. 1993 Feb;52(2):327-34.
Alterations in dopamine neurotransmission have been strongly implicated in the pathogenesis of schizophrenia for nearly 2 decades. Recently, the genes for five dopamine receptors have been cloned and characterized, and genetic and physical map information has become available. Using these five loci as candidate genes, we have tested for genetic linkage to schizophrenia in nine multigenerational families which include multiple affected individuals. In addition to testing conservative disease models, we have used a neurophysiological indicator variable, the P50 auditory evoked response. Deficits in gating of the P50 response have been shown to segregate with schizophrenia in this sample and may identify carriers of gene(s) predisposing for schizophrenia. Linkage results were consistently negative, indicating that a defect at any of the actual receptor sites is unlikely to be a major contributor to schizophrenia in the nine families studied.
近二十年来，多巴胺神经传递的改变一直被认为与精神分裂症的发病机制密切相关。最近，五个多巴胺受体的基因已被克隆和鉴定，并且已有遗传和物理图谱信息。我们将这五个基因座作为候选基因，在九个包含多个患病个体的多代家庭中测试了与精神分裂症的遗传连锁关系。除了测试保守的疾病模型外，我们还使用了一种神经生理学指标变量——P50听觉诱发反应。在这个样本中，P50反应的门控缺陷已被证明与精神分裂症相关联，并且可能识别出易患精神分裂症的基因携带者。连锁分析结果始终为阴性，表明在所研究的九个家庭中，任何实际受体位点的缺陷都不太可能是精神分裂症的主要病因。
Zotero 插件