Ohara K, Xu H D, Mori N, Suzuki Y, Xu D S, Ohara K, Wang Z C
Department of Psychiatry, Hamamatsu University School of Medicine, Japan.
Biol Psychiatry. 1997 Nov 1;42(9):760-6. doi: 10.1016/s0006-3223(97)00022-x.
Anticipation, i.e., a decrease in the age of onset and/or an increase in the severity of a disease in subsequent generations, and imprinting, i.e., different modes of parental transmission, have been suggested in trinucleotide repeat amplification diseases. The purpose of this study was to determine if anticipation and imprinting are associated with familial schizophrenia. Two generations of 49 schizophrenics from 24 families were studied. Ages of onset, numbers hospitalized, diagnostic subclasses of schizophrenia, amounts of antipsychotics, positive symptoms, negative symptoms, treatment resistance, and clinical course ratings, were compared between the two generations. The age of onset was significantly lower in the offspring generation, although there was no difference in the severity between the two generations. The negative symptom scores and clinical course scores in the offspring generation for paternal transmission were significantly higher than those for maternal transmission. Our results suggest the presence of imprinting and anticipation in schizophrenia.
在三核苷酸重复扩增疾病中,已有人提出存在遗传早现现象,即发病年龄降低和/或后代疾病严重程度增加,以及印迹现象,即亲代传递的不同模式。本研究的目的是确定遗传早现和印迹现象是否与家族性精神分裂症有关。对来自24个家庭的49名精神分裂症患者的两代人进行了研究。比较了两代人之间的发病年龄、住院次数、精神分裂症的诊断亚类、抗精神病药物用量、阳性症状、阴性症状、治疗抵抗以及临床病程评分。后代的发病年龄显著更低,尽管两代人在严重程度上没有差异。父系传递的后代中,阴性症状评分和临床病程评分显著高于母系传递。我们的结果表明精神分裂症中存在印迹现象和遗传早现现象。