Molecular Analysis of Survival Motor Neuron (SMN) and Neuronal Apoptosis Inhibitory Protein (NAIP) Genes in a Chinese Type III Spinal Muscular Atrophy (SMA) Family

李 桂楨(Guey-Jen Lee-Chen), 張 國軒(Kuo-Hsuan Chang), 秦 義雯(Yi-Wen Chin)

Research output: Contribution to journalArticle

Abstract

本研究中,我們檢視了台灣一個第三型脊椎性肌肉萎縮症(type III spinal muscular atrophy)家族致病基因的分子構造。我們以DNA序列專一的寡核甘酸引子(sequence-specific oligonucleotide primer)及聚合酵素鏈反應(polymerase chain reaction)放大survival motor neuron(SMN)基因的表現子7和8及neuronal apoptosis inhibitory protein(NAIP)基因的第五表現子。SMN基因的缺失可藉限制酵素切割(restriction endonuclease digestion)及單股核酸構形多型性(single strand conformation polymorphism)分析聚合酵素鏈反應放大的產物而檢測之。NAIP基因的缺失則可直接以瓊脂膠體電泳(agarosegel electrophoresis)檢測之。三位患者的telomeric SMN基因皆為同型合子(homozygous)的缺失,而NAIP基因別無缺失。患者的雙親、舅舅及祖母皆為異型合子(heterozygous)的telomeric SMN的基因缺失,其二位正常的姊姊則不帶有SMN基因缺失。
Original languageChinese (Traditional)
Pages (from-to)105-111
Number of pages7
Journal師大生物學報
Volume31
Issue number2
DOIs
Publication statusPublished - 1996

Keywords

  • 脊椎性肌肉萎縮症
  • SMN
  • NAIP
  • spinal muscular atrophy

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