Molecular analysis of the SMN and NAIP genes in Iranian spinal muscular atrophy patients
Molecular analysis of the SMN and NAIP genes in Iranian spinal muscular atrophy patients
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DOI：
10.1111/j.1442-200x.2008.02665.x
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发表时间：
2009-04-01
影响因子：
1.4
通讯作者：
Barzgar, Mohammad
中科院分区：
文献类型：
--
作者：
Omrani, Omid;Bonyadi, Morteza;Barzgar, Mohammad
脊髓性肌萎缩症（SMA）是一种常染色体隐性神经肌肉疾病，其特征是脊髓前角细胞变性，导致肌肉萎缩。根据发病年龄和严重程度，SMA在临床上分为三个亚组。大多数SMA患者存在存活运动神经元（SMN）基因外显子7和8的纯合缺失。本研究的目的是确定伊朗SMA患者中SMN和神经元凋亡抑制蛋白（NAIP）基因缺失的频率。在这一人群的SMA产前诊断的经验也报告。为了研究伊朗样本组中SMN和NAIP基因缺失的频率，根据van der Steege等人和Roy等人描述的方法，分析了75名无亲缘关系的SMA患者（54名I型，8名II型和13名III型）。75名患者中有68名（90%）发现SMN1外显子7和/或8纯合缺失。40/54的I型、2/8的II型和1/13的III型患者发现NAIP基因外显子5缺失。SMN1基因缺失是伊朗SMA的主要原因，NAIP基因缺失在目前的I型SMA患者中很常见。此外，在更严重的SMA中，NAIP缺失的发生率更高。
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by degeneration of spinal cord anterior horn cells, leading to muscular atrophy. SMA is clinically classified into three subgroups based on the age of onset and severity. The majority of patients with SMA have homozygous deletions of exons 7 and 8 of the survival motor neuron (SMN) gene. The purpose of the present study was to determine the frequency of SMN and neuronal apoptosis inhibitory protein (NAIP) gene deletions in Iranian SMA patients. Experience in prenatal diagnosis of SMA in this population is also reported.To study the frequency of deletions of SMN and NAIP genes in an Iranian sample group, 75 unrelated SMA patients (54 type I, eight type II and 13 type III) were analyzed according to the methods described by van der Steege et al and Roy et al.Homozygous deletion of SMN1 exons 7 and/or 8 were identified in 68 out of 75 patients (90%). Deletion of exon 5 of the NAIP gene was found in 40/54 of type I, 2/8 of type II and 1/13 of type III patients.Deletion of the SMN1 gene is a major cause of SMA in Iran, and NAIP gene deletions were common in the present patients with type I SMA. Also, the incidence of NAIP deletion is higher in more severe SMA.