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神经系统疾病中的DNA检测

DNA testing in neurologic diseases.

作者信息

O'Brien D P, Leeb T

机构信息

Department Veterinary Medicine and Surgery, College of Veterinary Medicine, University of Missouri, Columbia, MO.

出版信息

J Vet Intern Med. 2014 Jul-Aug;28(4):1186-98. doi: 10.1111/jvim.12383. Epub 2014 Jun 24.

Abstract

DNA testing is available for a growing number of hereditary diseases in neurology and other specialties. In addition to guiding breeding decisions, DNA tests are important tools in the diagnosis of diseases, particularly in conditions for which clinical signs are relatively nonspecific. DNA testing also can provide valuable insight into the risk of hereditary disease when decisions about treating comorbidities are being made. Advances in technology and bioinformatics will make broad screening for potential disease-causing mutations available soon. As DNA tests come into more common use, it is critical that clinicians understand the proper application and interpretation of these test results.

摘要

DNA检测可用于越来越多的神经学及其他专业的遗传性疾病。除了指导育种决策外,DNA检测还是疾病诊断的重要工具,尤其是在临床症状相对不具特异性的情况下。在做出合并症治疗决策时,DNA检测还可以为遗传性疾病风险提供有价值的见解。技术和生物信息学的进步将很快使对潜在致病突变的广泛筛查成为可能。随着DNA检测越来越普遍地使用,临床医生了解这些检测结果的正确应用和解读至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/20df/4857950/75ad961e4443/JVIM-28-1186-g001.jpg

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