Hayden M R, Nichols J L
Dev Neurosci. 1983;6(4-5):189-214. doi: 10.1159/000112346.
Disorders primarily affecting the nervous system comprise approximately one third of all established Mendelian genetic diseases in man. Recombinant DNA technology provides new approaches to the diagnosis and elucidation of the molecular pathology of these disorders. For a small but increasing number of disorders the DNA sequence coding for the involved protein has been used to define the precise molecular defect. An example is the Lesch-Nyhan syndrome. In many other situations, DNA fragments located near to the mutant gene can be used in family linkage studies to determine who is likely to have inherited the abnormal allele(s). Examples include Duchenne muscular dystrophy, Huntington's disease, and phenylketonuria. This technology offers unique opportunities to investigate the function of the nervous system in health and disease and will have a major impact on the neurosciences and the practice of clinical neurology.
主要影响神经系统的疾病约占人类所有已确定的孟德尔遗传病的三分之一。重组DNA技术为这些疾病的诊断和分子病理学的阐明提供了新方法。对于少数但数量不断增加的疾病，编码相关蛋白质的DNA序列已被用于确定精确的分子缺陷。一个例子是莱施-奈恩综合征。在许多其他情况下，位于突变基因附近的DNA片段可用于家族连锁研究，以确定谁可能遗传了异常等位基因。例子包括杜兴氏肌营养不良症、亨廷顿舞蹈症和苯丙酮尿症。这项技术为研究健康和疾病状态下神经系统的功能提供了独特的机会，并将对神经科学和临床神经病学实践产生重大影响。
