A study of genome instability and imprinting in schizophrenia.

我们假设精神分裂症的遗传基础是由移动元件介导的突变事件，导致基因组在异常甲基化下不稳定。这些移动元素的动态并不是完全固定的，可能是在印记方面或在事件开始后逐渐形成的。在此，我们尝试从三组精神分裂症患者以及患者和对照对象的序贯样本中筛选LINE-1和ALU介导的从头突变。因此，我们已经确定了由LINE-1和Alu介导的针对患者的从头突变。我们的结果提示，运动元素的动态变化可能是精神分裂症的危险因素之一。进一步的研究需要使用从不同样本中筛选移动元素介导的从头突变来阐明精神分裂症的病因。

We hypothesize that the genetic basis for schizophrenia is mutational events mediated by the mobile elements causing genome instability under the abnormal methylation. These dynamics of mobile elements is not fully fixed, and might be progressively in terms of imprinting or after event onset. Herein, we have attempted the screening of de novo mutations mediated by LINE-1 and Alu in patients from the schizophrenia trios and the sequential samples from patient and control subject. Consequently, we have identified the de novo mutation mediated by LINE-1 and Alu which were specific to patient. Our results suggested that the dynamics of mobile elements might be one of the risk factors for schizophrenia. Further research using screenings of de novo mutations mediated by mobile elements from various samples is needed to clarify the etiology in schizophrenia.