论文部分内容阅读
近日,《自然》在线发表了英国研究人员新发现的与发育障碍相关的基因,这些发育障碍会导致先天性心脏缺陷、癫痫和智力障碍。有着严重发育障碍的孩子一半以上都无法进行相关的基因诊断,这些新发现的基因增加了可以诊断的儿童的比例。因为一些发育障碍非常罕见,不会获得单独的临床诊断,又或因为症状变化多样,亦或者很难从极其类似的发育障碍中区分出来,所以发育障碍相关的基因诊断很不容易。为了更好地了解这些发育障碍的遗传因素,英国惠康基金会桑格研究院的Matthew Hurles和他的研究团队在全
Recently, Nature published online the newly discovered genes related to developmental disorders discovered by British researchers. These developmental disorders lead to congenital heart defects, epilepsy and mental retardation. More than half of children with severe developmental disorders are unable to make genetic diagnoses, and these newly discovered genes increase the proportion of children who can be diagnosed. Genetic diagnosis of developmental disorders is not easy because some developmental disorders are rare and do not result in a single clinical diagnosis, or because the symptoms vary, or are difficult to distinguish from the most similar developmental disorders. To better understand the genetic determinants of these developmental disorders, Matthew Hurles of the Wellcome Foundation Sanger Institute and his research team