頁籤選單縮合
題 名 | Molecular Analysis of Survival Motor Neuron (SMN) and Neuronal Apoptosis Inhibitory Protein (NAIP) Genes in a Chinese Type Ⅲ Spinal Muscular Atrophy (SMA) Family=臺灣一個第三型脊椎性肌肉萎縮症(Type Ⅲ SMA)家族致病基因的分子研究 |
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作 者 | 李桂楨; 張國軒; 秦義雯; | 書刊名 | 師大生物學報 |
卷 期 | 31:2 1996.12[民85.12] |
頁 次 | 頁105-111 |
分類號 | 415.9413 |
關鍵詞 | 脊椎性肌肉萎縮症; Spinal muscular atrophy; SMN; NAIP; |
語 文 | 英文(English) |
中文摘要 | 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(sing1e strand conformation po1ymorphism)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。 |
英文摘要 | In this report we present the genetic studies in a Chinese type III spinal muscular atrophy (SMA) family. The survival motor neuron (SMN) gene exons 7 and 8 and neuronal apoptosis inhibitory protein (NAIP) gene exon 5 were amplified by sequence-specitic oligonucleotide primer and polymerase chain reaction (PCR). The SMN gene deletion was detected by restriction endonuclease digestion and single strand conformation polymorphism (SSCP) analysis of PCR-amplified products. The deletion in NAIP gene was detected directly by agarose gel electrophoresis of multiplex PCR-amplified products. All three affected siblings are homozygous for telomeric SMN gene deletion, whereas no NAIP gene deletion was found. Both parents, maternal uncle; and paternal grandmother of affected sibs showed heterozygosity for telomeric SMN deletions. Two unaffected sibs are non-carriers for SMN deletions. |
本系統中英文摘要資訊取自各篇刊載內容。