MOLECULAR GENETIC STUDY OF MANIC DEPRESSION AND SCHIZOPHRENIA

首席研究员Byerley博士已移居加州大学欧文分校，但合作者仍留在犹他州，患者继续在GCRC接受评估，GCRC核心实验室维护着大量EB病毒转化的细胞系。这项研究的主要目的是确定躁郁症(MDI)和精神分裂症(SCZ)的易感性基因。来自美国、帕劳、密克罗尼西亚和俄罗斯达赫斯坦的远交种群的血统确认仍在继续。从山间西部分离出16个MDI复合家系和20个SCZ复合家系，完成了表型鉴定，建立了500多个细胞系和DNA库。帕劳的目标是确定所有精神分裂症病例及其亲属。在密克罗尼西亚帕劳与世隔绝的人口中，约有160名精神分裂症患者已被确定，并从MOST收集了DNA和细胞系。帕劳几乎所有的SCZ病例都被证明是家族性的。从Dagahestan收集的样本产生了15个家庭，其中9个是大型多发性家庭，每个家庭都有12至60例SCZ病例。本研究采用一般连锁分析和候选基因分析两种方法。许多研究结果已经发表。几乎可以肯定的是，SCZ和MDI都是复杂的疾病，有多个致病基因。在来自不同来源的家系中发现了与几个基因座的连锁。

The Principal Investigator, Dr. Byerley, has moved to the University of California at Irvine but collaborators remain at Utah and patients continue to be evaluated at the GCRC and a very large collection of Epstein-Barr Virus transformed cell lines is maintained in the GCRC Core Laboratory. The principal objective of this study is to identify genes that underlie susceptibility to manic-depressive illness (MDI) and schizophrenia (SCZ). Pedigree ascertainment continues in outbred populations from the United States, Palau, Micronesia and Dagahestan, Russia. Sixteen multiplex MDI pedigrees and 20 multiplex pedigrees with SCZ have been ascertained from the Intermountain West, phenotyping has been completed and over 500 cell lines and DNA stocks have been established. The objective in Palau was to ascertain all cases of schizophrenia and the relatives. Approximately 160 schizophrenics in the isolated population of Palau, Micronesia have been ascertained and DNA and cell lines collected from most. Almost all cases of SCZ in Palau have proven to be familial. The sample collected from Dagahestan has yielded 15 families, nine of which are large multiplex families, each having between 12 and 60 cases of SCZ. Both general linkage analysis and the candidate gene approach are being employed by this study. Many of the results have been published. Both SCZ and MDI are almost certainly complex disorders with multiple contributing genes. Linkage to several loci have been detected in pedigrees from various sources.