Roses A D, Pericak-Vance M A, Yamaoka L H, Stubblefield E, Stajich J, Vance J M, Roses M J, Carter D B
Muscle Nerve. 1983 Jun;6(5):339-55. doi: 10.1002/mus.880060503.
The application of recombinant DNA techniques applied to the study of genetic neurological diseases will play a major role in the practice of neurology in upcoming years. Strategies are now available to develop useful and relatively simple biochemical diagnostic tests for heterozygous individuals with diseases inherited as autosomal dominant traits. In addition, molecular genetic methods will lead to the delineation of the genomic mutations responsible for these diseases. This review will update the current status of research in several neurological genetic diseases including myotonic muscular dystrophy, Huntington's disease, Charcot-Marie-Tooth disease and Duchenne muscular dystrophy (X-linked). An introduction and overview of the methodology is provided. Specific research strategies including random screening of libraries, chromosome walking, messenger RNA selection, and messenger RNA translation are described. These strategies are designed to provide heterozygote identification, prenatal diagnosis and gestational management, the development of rational therapies, and the understanding of the molecular basis of disease expression.
将重组DNA技术应用于遗传性神经疾病的研究，在未来几年的神经病学实践中将发挥重要作用。目前已有策略可用于为患有常染色体显性遗传疾病的杂合个体开发有用且相对简单的生化诊断测试。此外，分子遗传学方法将有助于明确导致这些疾病的基因组突变。本综述将更新几种神经遗传性疾病的研究现状，包括强直性肌营养不良、亨廷顿舞蹈症、夏科-马里-图斯病和杜兴氏肌营养不良症（X连锁）。本文还将对相关方法进行介绍和概述。文中描述了具体的研究策略，包括文库的随机筛选、染色体步移、信使核糖核酸选择和信使核糖核酸翻译。这些策略旨在实现杂合子鉴定、产前诊断和孕期管理，开发合理的治疗方法，以及理解疾病表达的分子基础。
