利用毛細管電泳法分析運動神經原存活基因於診斷脊髓肌肉萎縮症

Capillary Gel Electrophoresis for Analysis of Survival Motor Neuron Gene in Diagnosis of Spinal Muscular Atrophy

王俊棋(Chun-Chi Wang) ； 陳俊安(Chung-An Chen)

《化學》 76卷1期 (2018/03) Pp. 3-16

https://doi.org/10.6623/chem.201803_76(1).003

摘要

現行發現許多疾病或藥物治療皆與基因相關，因此基因檢測已是目前臨床相當重視的檢測項目，而脊髓肌肉萎縮症(spinal muscular atrophy, SMA)為發生頻率相當高的遺傳性疾病，此疾病由運動神經原存活基因(survival motor neuron, SMN)所控制，其症狀會造成嚴重的肌肉無力，甚至呼吸衰竭而死亡，然而目前此疾病並無有效治癒方法，惟有靠基因診斷來防止疾病發生。目前臨床已有許多診斷此SMA疾病之方法，但各有其優缺點；而毛細管電泳法(CE)為近年來快速發展的一項分離技術，其優點包括快速分析、高解析度、少量樣品需求及低環境污染等，非常適用於基因檢測，再加上毛細管定序儀(capillary DNA sequencer)之發明，更促進毛細管電泳法於基因分析上的發展。因此本文章即回顧先前利用毛細管電泳法分析SMN基因之文獻，希望此些技術往後可應用於臨床作為診斷SMA之依據。

關鍵字

脊髓肌肉萎縮症 ； 運動神經原存活基因 ； 毛細管電泳法 ； 探針技術

並列摘要

Many diseases or drug treatment have been found genetically related, and genetic testing has so far been considered as important item in clinical test. Spinal muscular atrophy (SMA) controlled by the gene of survival motor neuron (SMN gene) is a genetic diseases with a high frequency. The symptoms of this disease include severe muscle weakness and even death from respiratory failure. Currently, there is no effective cure for this disease, but gene diagnosis can prevent the disease from occurring. At present, there are many clinical strategies for diagnosis of this SMA disease. However, each of these techniques has its own advantages and disadvantages. Capillary electrophoresis (CE) including the advantages of rapid analysis, high resolution, few sample requirements and low environmental pollution is very suitable for genetic testing. Additionally, the invention of the capillary DNA sequencer promote capillary electrophoresis in the development of genetic analysis. Therefore, this article reviews the previous literatures on the use of capillary electrophoresis for the analysis of SMN genes. And it is hoped that these techniques could be used as a tool for the diagnosis of SMA in clinical.

並列關鍵字

Spinal muscular atrophy ； Survival motor neuron gene ； Capillary electrophoresis ； Probe technique