A simple method for diagnosis of autosomal recessive spinal muscular atrophy by denaturing high-performance liquid chromatography
A simple method for diagnosis of autosomal recessive spinal muscular atrophy by denaturing high-performance liquid chromatography
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DOI：
10.1177/08830738030180041301
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发表时间：
2003-04-01
影响因子：
1.9
通讯作者：
Quattrone, A
中科院分区：
文献类型：
--
作者：
Mazzei, R;Conforti, FL;Quattrone, A
常染色体隐性遗传性脊髓性肌萎缩症是由运动神经元存活基因（SMN）突变引起的。在染色体5 q13上存在两个几乎相同的该基因的拷贝;然而，在脊髓性肌萎缩症中，只有该基因的端粒拷贝受到影响。在这项研究中，我们描述了一种通过变性高效液相色谱检测SMN基因缺失的新方法，该方法也易于执行，但更快，更特异。（J Child Neurol 2003;18：269-271）。
Autosomal recessive spinal muscular atrophy is caused by mutations in the survival motoneuron (SMN) gene. There are two nearly identical copies of this gene present on chromosome 5q13; however, only the telomeric copy of this gene is affected in spinal muscular atrophy In this study, we describe a new method to detect SMN gene deletion by denaturing high-performance liquid chromatography, which is also simple to perform but is faster and more specific. (J Child Neurol 2003;18:269-271).