Research on DNA methylation for two-generation pairs with schizophrenia (Anticipation and modulation of gene expression in schizophrenia)

本研究的目的是探讨包括表观遗传DNA修饰在内的精神分裂症遗传预期的分子机制。12对两代精神分裂症患者，表现出明显的预期。，进行了检查。首先，我们使用甲基化敏感限制性内切酶Hap II和甲基化不敏感酶MspI研究了多巴胺D2受体基因（DRD2）的启动子区域是否甲基化。酶切后进行聚合酶链反应（PCR）。这个。用聚丙烯酰胺凝胶电泳测定PCR产物的大小。DRD2启动子区的甲基化在两代之间没有发现差异。其次，我们用高效液相色谱法（HPLC）测定了8对精神分裂症两代人外周血白细胞DNA中5-甲基-2′-脱氧胞苷（mC）的含量，比较了两代人的整体甲基化水平。我们没有得到明显的结果。总之，我们没有发现精神分裂症中遗传预期和DNA甲基化之间关系的证据。因此，在未来的研究中，我们将致力于收集更多的受试者并尝试其他酶。

The aim of this study was to explore the molecular mechanisms including epigenetic DNA modification underlying genetic anticipation in schizophrenia. Twelve two-generation pairs with schizophrenia, which showed prominent anticipation., were examined.First, we investigated whether the promoter region of dopamine D2 receptor gene (DRD2) was methylated or not, using the methylation-sensitive restriction enzyme, Hap II, and the methylation-insensitive enzyme, MspI. After enzyme digestion, polymerase chain reaction (PCR) was performed, and. the. size of PCR products was determined with polyacrylamide gel electrophoresis. No difference was found between two generation in methylation of the promoter region of DRD2.Second, we measured 5-methyl-2'-deoxycytidine (mC) contents by high performance liquid chromatography (HPLC) in peripheral leukocytes DNA obtained from eight two-generation pairs with schizophrenia, to compare the global methylation levels between two generation. We obtained no significant results in this method.In summary, we found no evidence for the relationship between genetic anticipation and DNA methylation in schizophrenia. Therefore in future studies we will aim to collect more subjects and try other enzymes.