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首页> 外文期刊>Genetic testing and molecular biomarkers >A Duplex Allele-Specific Amplification PCR to Detect SМN1 Deletion
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A Duplex Allele-Specific Amplification PCR to Detect SМN1 Deletion

机译：双Allele-Specific扩增PCR检测年代МN1删除

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摘要

Spinal muscular atrophy (SMA), the leading genetic cause of death in childhood, is an autosomal recessive neuromuscular disorder characterized by progressive muscle weakness, associated with deletions of the survival motor neuron (SMN) gene identified and mapped to chromosome 5q13. SMN is present in two highly homologous copies (SMN1 and SMN2). In the general population, normal individuals (noncarriers) have at least one telomeric (SМN1) copy, and 5% of them have no copies of SMN2. Approximately 95% of SMA patients carry homologous deletions of SMN1 exon(s) 7 (and 8). SMN1 and SMN2 exons 7 and 8 differ only by 1 bp each, and SMA diagnosis might be performed by single-strand conformational polymorphism, PCR amplification followed by restriction fragment length polymorphism (RFLP), multiple ligation—dependent probe amplification, or realtime PCR of SМNs exons 7 and 8. We developed a simpler and cost-effective method to detect SM N1 exon 7 deletion based on allele-specific amplification PCR.
机译：脊髓性肌萎缩(SMA),领先的基因导致死亡的童年,是一个常染色体隐性的神经肌肉疾病的特征进行性肌无力,联系在一起删除的运动神经元存活(SMN)基因识别并映射到5号染色体问题。出现在两个高度同源拷贝(SMN1和SMN2)。个人(非)至少有一个端粒(SМN1)复制和5%的人没有SMN2的副本。携带相应的删除SMN1外显子(s) 7(和8)。SMN1和SMN2外显子7和8不同只有1英国石油公司,和SMA诊断可能会执行的聚合酶链反应单链构象多态性放大之后,限制片段长度多态(RFLP),多个ligation-dependent探测器放大,或实时PCR (SМNs外显子7和8。一个简单的和具有成本效益的方法来检测SM基于allele-specific N1外显子7删除扩增PCR。

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