Dorsett Dale
Edward A. Doisy Biochemistry and Molecular Biology Department, Saint Louis University School of Medicine, USA.
Mo Med. 2013 Jul-Aug;110(4):309-13.
Many times, when a human genetic disease is mapped to mutations in a specific gene, little is known about the biological functions of the affected gene. Development of new therapeutic methods is facilitated by understanding the gene's biological roles. Such information can often be obtained in animal models, such as the fruit fly. Here we describe how understanding a gene's function in fruit flies has illuminated the etiology of Cornelia de Lange syndrome.
很多时候，当一种人类遗传疾病被定位到某个特定基因的突变时，对于受影响基因的生物学功能却知之甚少。了解基因的生物学作用有助于开发新的治疗方法。这类信息通常可以在动物模型中获得，比如果蝇。在此我们描述了对果蝇中一个基因功能的了解如何阐明了科妮莉亚·德·朗格综合征的病因。
