STUDIES OF HEREDITY AND ENVIRONMENT IN SCHIZOPHRENIA

最近报道了一组瑞典男性同卵三胞胎，全部被诊断为精神分裂症，具有许多临床和解剖学上的相似之处。一项细胞遗传学研究表明，此外，所有的男性和他们的父亲在15p染色体上都有一个额外的条带，其中包含重复的DNA，对表型的影响尚不清楚（Jonsson et al., 1997）。为了测试15p时额外的染色体带是否可能是多胎精神分裂症出生的标志，我们研究了在两个不同的情况下从Genain四胞胎（当他们66岁时）获得的血液样本，以及其中一个四胞胎的成年儿子的样本。我们使用高分辨率染色体分析（Johannesson et al., 1991），包括c带（Sumner 1972）。核型由两名细胞遗传学家独立检测。所有核型均在正常范围内，第15号染色体未见明显的额外带。我们得出结论，瑞典三胞胎中15p染色体的异常并没有被另一组患有精神分裂症的多个基因相同的兄弟姐妹所共享。目前的结果表明，瑞典三胞胎中15p染色体上的额外带的重要性，如果有的话，与多胞胎同卵婴儿中精神分裂症的过度发展无关。这一发现的报告发表在《生物精神病学》（Jonsson et al., 1997）上。最近，我们对Genains进行了一项长达39年的跟踪研究，以绘制他们在过去40年里在注意力测试中的表现轨迹。虽然姐妹中有一个精神错乱，并被关进了养老院，但剩下的三个人并没有表现出明显的退化，而且表现得比上世纪50年代第一次见到时要好。该报告已被《精神分裂症公报》接受发表。-精神分裂症，遗传学，环境，神经心理学研究，注意力-人类主题

Recently a set of Swedish male monozygotic triplets was reported, all diagnosed as schizophrenic, characterized by numerous clinical and anatomical similarities. A cytogenetic study showed that, in addition, all the men and their father had an extra band at chromosome 15p containing repetitive DNA with an as yet unknown effect on the phenotype (Jonsson et al., 1997). To test whether the extra chromosomal band at 15p may be a marker for excess multiple schizophrenic birth, we investigated blood samples obtained on two different occasions from the Genain quadruplets (when they were 66 years of age), as well as a sample from the adult son of one of the quadruplets. We used high resolution chromosomal analysis (Johannesson et al., 1991), including C-banding (Sumner 1972). The karyotypes were examined independently by two cytogeneticists. All karyotypes were within normal limits and no extra band on chromosome 15 was evident. We conclude that the abnormality at chromosome 15p in the Swedish triplets was not shared by another set of multiple, genetically-identical siblings with schizophrenia. The present result indicates that the importance, if any, of the extra band on chromosome 15p in the Swedish triplets is not related to excess development of schizophrenia among multiple monozygotic births. A report of this finding was published in Biological Psychiatry (Jonsson et al., 1997). More recently, we conducted a 39-year followup study of the Genains, to plot the trajectory of their performance on attention tests over the last four decades. Although one of the sisters is demented, and confined to a nursing home, the remaining three have not shown significant deterioration, and are performing better than when first seen in the 1950s. The report has accepted for publication in the Schizophrenia Bulletin. - SCHIZOPHRENIA, GENETICS, ENVIRONMENT, NEUROPSYCHOLOGICAL STUDY, ATTENTION - Human Subjects