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王旻晋, 王军, 白梦鸽等. 中国西南地区汉族脊肌萎缩症患者SMA相关基因分子特征[J]. koko体育app 学报(医学版), 2016, 47(6): 936-940.
引用本文: 王旻晋, 王军, 白梦鸽等. 我国西南东南部东南部汉人脊肌退化症病患SMA有关人类基因碳原子特殊性[J]. 江西院校学报(临床版), 2016, 47(6): 936-940.
WANG Min-jin, WANG Jun, BAI Meng-ge. et al. Molecular Features of SMA-related Genes in Spinal Muscular Atrophy Patients of Han Nationality in[J]. Journal of Sichuan University (Medical Sciences), 2016, 47(6): 936-940.
Citation: WANG Min-jin, WANG Jun, BAI Meng-ge. et al. Molecular Features of SMA-related Genes in Spinal Muscular Atrophy Patients of Han Nationality in[J]. Journal of Sichuan University (Medical Sciences), 2016, 47(6): 936-940.

中国西南地区汉族脊肌萎缩症患者SMA相关基因分子特征

Molecular Features of SMA-related Genes in Spinal Muscular Atrophy Patients of Han Nationality in

  • 摘要: 目的 以中国西南地区汉族人群为研究对象,构建脊肌萎缩症(SMA)相关基因拷贝数变化频率,为SMA的临床诊断和分型提供依据。方法 收集62例临床诊断为SMA的无亲缘关系患者,以及50例无亲缘关系的正常人作为健康对照组,采用多重连接酶依赖的探针扩增技术(MLPA)分析运动神经元基因(SMN)和神经原凋亡抑制蛋白基因(NAIP)的拷贝数。 结果 62例患者中,SMAⅠ~Ⅳ型分别占30.65%(19/62)、41.94%(26/62)、16.13%(10/62)、11.29%(7/62)。SMN1基因外显子7纯合缺失占98.38%(61/62),SMN1基因外显子8纯合缺失占82.26%(51/62)。SMAⅠ型患者中NAIP基因外显子5有68.42%(13/19)纯合缺失,26.32%(5/19)杂合缺失;SMAⅡ~Ⅳ型患者中NAIP基因外显子5有13.95%(6/43)纯合缺失,62.79%(27/43)杂合缺失。SMAⅠ型患者中68.42%(13/19)有1~2拷贝的SMN2基因,SMAⅡ型中84.62%(22/26)有2拷贝以上的SMN2基因,90.00%(9/10)SMAⅢ型和85.71%(6/7)SMAⅣ型患者有2拷贝以上的SMN2基因,且发现有5拷贝和6拷贝SMN2基因。结论 SMN1基因缺失是SMA的主要致病原因,SMN2和NAIP基因拷贝数变化可以影响SMA病情严重程度。  
    Abstract: Objective To investigate the molecular features of spinal muscular atrophy (SMA) related genes in SMA patients of Han nationality of southwest of China. Methods We collected 62 unrelated patients of SMA and 50 unrelated healthy individuals in this study. The copy numbers of survival motor neuron gene (SMN) and uronal-apoptosis inhibitory protein gene (NAIP) were measured by using multiplex ligation-dependent probe amplification (MLPA). Results Of 62 patients, the copy number of SMAⅠ-Ⅳ were 30.65% (19/62), 41.94%(26/62), 16.13% (10/62), 11.29% (7/62), respectively. The deletion of SMN1 exon 7 accounts for 98.38% (61/62). The deletion of SMN1 exon 8 accounts for 82.26% (51/62). Among SMA Ⅰ patients, the homozygous deletion of NAIP exon 5 accounts for 68.42% (13/19) and heterzygous deletion accounts for 26.32% (5/19). Among SMAⅡ-Ⅳpatients, the homozygous deletion of NAIP exon 5 accounts for 13.95% (6/43) and heterzygous deletion accounts for 62.79% (27/43). Furthermore, 68.42% (13/19) patients of SMAⅠhave 1 copy and 2 copies of SMN2 gene, 84.62% (22/26) patients of SMA Ⅱ have more than 2 copies of SMN2 gene, 90.00% (9/10) SMAⅢ and 85.71% (6/7) SMAⅣ have over 2 copies of SMN2 gene and even have 5 and 6 copy of SMN2 gene. Conclusion The deletion of SMN1 gene is the main cause of SMA, and the change of SMN2 and NAIP copy number can affect the severity of SMA.  
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