Diagnosis of Progressive Spinal Muscular Atrophy by Using Polymerase Chain Reaction
姚娟
丁新生
陈克连
程虹
邓晓萱
沈鸣九
王颖
1.Department of Neurology, the First Affiliated Hospital of Nanjing Medical University ,2.Department of Neurology, the First Affiliated Hospital of Nanjing Medical University ,3.Department of Neurology, the First Affiliated Hospital of Nanjing Medical University ,4.Department of Neurology, the First Affiliated Hospital of Nanjing Medical University ,5.Department of Neurology, the First Affiliated Hospital of Nanjing Medical University ,6.Department of Neurology, the First Affiliated Hospital of Nanjing Medical University ,7.Department of Neurology, the First Affiliated Hospital of Nanjing Medical University ,
摘要：Objective To understand the deletion in the survival motor neuron gene (SMN) of childhood-onset spinal muscular atrophy (SMA) in Chinese, and the value of diagnosis of SMA using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)method. Methods Deletions of SMN gene of exon 7 and 8 in 10 cases of presumed SMA, and 20 normal controls from 6 families and 30 unrelated controls were performed by PCR-RFLP analysis. Results Deletions of SMN gene detected in 9 of 10 (90%) cases of presumed SMA . No deletions of SMN in the telomere were found in the other members of families and controls.Conclusion PCR-RFLP is a sensitive, specific and simple method in diagnosis of SMA.
机标关键词：
分类号：R3(基础医学)
论文发表日期：2001-07-02
在线出版日期：2025-08-15（本平台首次上网日期，不代表文献的发表时间）
页数：4( 101-104 )