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

台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

李桂楨(Guey-Jen Lee-Chen) ； 張國軒(Kuo-Hsuan Chang) ； 秦義雯(Yi-Wen Chin)

《師大生物學報》 31卷2期 (1996/12) Pp. 105-111

https://doi.org/10.29812/BBNTNU.199612.0001

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（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。

關鍵字

脊椎性肌肉萎縮症 ； SMN ； NAIP

並列摘要

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.

並列關鍵字

spinal muscular atrophy ； SMN ； NAIP