Payne C S, Roses A D
Department of Medicine, Duke University Medical Center, Durham, NC 27710.
Arch Neurol. 1988 Dec;45(12):1366-76. doi: 10.1001/archneur.1988.00520360084019.
Applying the techniques of molecular genetics to the study of inherited diseases has made significant progress in recent years. The goal of this review is to update the clinical neurologist on the current state of progress in neurogenetic research. This progress has been primarily in the field of gene mapping--assigning a disease to its chromosomal locus. More recent advances have been in the cloning and study of the involved proteins in disorders such as Duchenne muscular dystrophy. The techniques are powerful and predictable in outcome. Knowledge in the field of genetic disorders will continue to expand rapidly. Many neurologic disorders have a genetic origin. As progress continues in the study of neurogenetic diseases, the clinical neurologist will have increasing options for diagnosis and counseling. Eventually, it is anticipated that therapeutic interventions will be available for some disorders. The clinical neurologist is a key worker in both research as well as the practical application of research advances. This review will focus initially and briefly on the basic methods of molecular genetic research. After the introduction to these methods, the remainder of the review will discuss recent advances in several neurogenetic disorders by the clinical neurologist. Gene therapy will also be briefly discussed.
近年来，将分子遗传学技术应用于遗传性疾病的研究已取得显著进展。本综述的目的是向临床神经科医生介绍神经遗传学研究的当前进展情况。这一进展主要体现在基因定位领域——将一种疾病定位到其染色体位点。最近的进展在于对诸如杜氏肌营养不良等疾病中相关蛋白质的克隆和研究。这些技术强大且结果可预测。遗传疾病领域的知识将继续迅速扩展。许多神经系统疾病都有遗传根源。随着神经遗传疾病研究的不断进展，临床神经科医生在诊断和咨询方面将有越来越多的选择。最终，预计对某些疾病将有治疗干预措施。临床神经科医生是研究以及研究进展实际应用中的关键工作者。本综述将首先简要聚焦于分子遗传学研究的基本方法。在介绍这些方法之后，综述的其余部分将由临床神经科医生讨论几种神经遗传疾病的最新进展。还将简要讨论基因治疗。
