Genetic screening method for analyzing survival motor neuron copy number in spinal muscular atrophy by multiplex ligation-dependent probe amplification and droplet digital polymerase chain reaction.
Genetic screening method for analyzing survival motor neuron copy number in spinal muscular atrophy by multiplex ligation-dependent probe amplification and droplet digital polymerase chain reaction.
复制标题
通过多重连接依赖性探针扩增和液滴数字聚合酶链式反应分析脊髓性肌萎缩症中存活运动神经元拷贝数的遗传筛查方法
DOI：
10.1097/cm9.0000000000001102
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发表时间：
2020-10-20
影响因子：
6.1
通讯作者：
Li JJ
中科院分区：
文献类型：
--
作者：
Hong JM;Zhao M;He J;Huang XJ;Zhao ZY;Chen WJ;Wang N;Li JJ
To the Editor: Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by a deficiency of the survival motor neuron 1 (SMN1) protein, which causes the loss of motor neurons in the anterior horn of the spinal cord.[1] A genetically similar gene, SMN2, has a translationally silent C-to-T transition at Position 6 in its 7th exon that causes only 10% correctly spliced full-length and functional SMN protein via alternative splicing. But in SMA-affected individuals, SMN2 is the sole source of SMN protein and defined to be a disease-modifying gene because of the relationship between its copy number (1–8) and disease severity.[2] Numerous assays have been revealed to quantify copy numbers of SMN1 and SMN2 in DNA samples. Currently, multiplex ligation-dependent probe amplification (MLPA)[3] and an emerging method of droplet digital polymerase chain reaction (ddPCR)[4] are two widely used genetic screening methods. Therefore, the reproducibility of the two different technologies was compared for assessing copy numbers of SMN1 and
