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A rapid molecular diagnostic method for spinal muscular atrophy
Journal of Neurogenetics ( IF 1.9 ) Pub Date : 2020-12-17 , DOI: 10.1080/01677063.2020.1853721
Kai-Chen Wang, Chiao-Yuan Fang, Chi-Chang Chang, Chien-Kuan Chiang, Yi-Wen Chen

Abstract

Spinal muscular atrophy (SMA) is a common autosomal recessive disorder which has been considered as the second common cause of infant death, with an estimated prevalence of 1 in 10,000 live births. The disorder is caused by survival motor neuron 1 gene (SMN1) deficiency leading to limb weakness, difficult swallowing and abnormal breathing. Here, a fast and accurate method for SMA detection has been developed. Genomic DNA sample collected from whole blood, amniotic fluid, or dried blood spots can be analysed by using the Clarity™ Digital PCR (dPCR) System for determining the copy numbers of SMN1 and SMN2 genes. Two hundred and fourteen clinical samples determined by qPCR-based method were enrolled and used to establish the cut-off ranges for unaffected individual, SMA carrier and SMA patient categories. After setting the cut-off range for each group, 12 samples were analyzed by both dPCR-based method and MLPA (multiplex ligation-dependent probe amplification), the current testing golden standard for SMA, and 100% concordant results between the two testing methods were performed. CSB SMA Detection Kit combined with dPCR platform provides a robust and precise approach to distinguish unaffected individuals, SMA carrier and SMA patients. This rapid molecular diagnostic method can be adapted to pre-pregnancy eugenics inspection, prenatal testing as well as newborns screening and help physicians or genetic counselors to improve population SMA incidence.



中文翻译:

脊髓性肌萎缩症的快速分子诊断方法

摘要

脊髓性肌萎缩症 (SMA) 是一种常见的常染色体隐性遗传疾病,被认为是婴儿死亡的第二大常见原因,估计每 10,000 名活产婴儿中就有 1 人患病。该疾病是由存活运动神经元 1 基因 ( SMN1 ) 缺陷引起的,导致肢体无力、吞咽困难和呼吸异常。在这里,已经开发出一种快速准确的 SMA 检测方法。可以使用 Clarity™ 数字 PCR (dPCR) 系统分析从全血、羊水或干血斑中采集的基因组 DNA 样本,以确定SMN1SMN2的拷贝数基因。通过基于 qPCR 的方法确定的 214 个临床样本被纳入并用于建立未受影响个体、SMA 携带者和 SMA 患者类别的截止范围。在为每组设定截止范围后,12 个样本同时通过基于 dPCR 的方法和 MLPA(多重连接依赖性探针扩增)(目前 SMA 的测试金标准)进行分析,两种测试方法之间的结果 100% 一致进行了。CSB SMA 检测试剂盒与 dPCR 平台相结合,提供了一种强大而精确的方法来区分未受影响的个体、SMA 携带者和 SMA 患者。这种快速分子诊断方法可适用于孕前优生检查、产前检测以及新生儿筛查,帮助医生或遗传咨询师提高人群 SMA 发病率。

更新日期:2020-12-17
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