Rosenberg R N
Ann Neurol. 1984 Jun;15(6):511-20. doi: 10.1002/ana.410150602.
The molecular defects responsible for Huntington's disease, the spinocerebellar degenerations, myotonic muscular dystrophy, neurofibromatosis, and tuberous sclerosis, among other major dominant inherited diseases of the nervous system, will be identified using the new techniques of molecular genetics. With synthesized nucleic acid segments complementary to portions of the patient's DNA, known as complementary DNA probes, it will be possible to identify and isolate the mutant gene responsible for a particular disease. These events are referred to as gene cloning. In addition, complex genetic regulatory mechanisms involved in cell differentiation during neuroembryogenesis will be elucidated with the application of these strategies. It is important for the clinician to become familiar with the precision and potential of these new methodologies, because they will soon influence significantly the practice of neurology.
利用分子遗传学的新技术，将确定导致亨廷顿病、脊髓小脑变性、强直性肌营养不良、神经纤维瘤病和结节性硬化症等主要显性遗传性神经系统疾病的分子缺陷。使用与患者DNA部分互补的合成核酸片段，即互补DNA探针，将有可能识别和分离导致特定疾病的突变基因。这些过程被称为基因克隆。此外，通过应用这些策略，将阐明神经胚胎发生过程中细胞分化所涉及的复杂遗传调控机制。临床医生熟悉这些新方法的精确性和潜力很重要，因为它们很快将对神经病学实践产生重大影响。
