脊髓性肌萎缩患儿的NAIP基因分析

Study of NAIP gene in spinal muscular atrophy

目的探讨脊髓性肌萎缩的基因型与临床表型（ｓｕｒｖｉｖａｌｍｏｔｏｒｎｅｕｒｏｎｅ，ＳＭＮ）的关系。方法应用ＰＣＲ技术对１３例运动神经元型基因缺失的脊髓性肌萎缩患儿进一步进行神经原性细胞凋亡抑制蛋白（ｎｅｕｒｏｎａｌａｐｏｐｔｏｓｉｓｉｎｈｉｂｉｔｏｒｙｐｒｏｔｅｉｎＮＡＩＰ）基因分析（Ⅰ型５例，Ⅱ型４例，Ⅲ型４例）。结果２例Ⅰ型患儿携有ＮＡＩＰ基因缺失（２／５，４０％）。

Objective Investigating the correlation between the genotype and spinal muscular atrophy(SMA) clinical phenotype. Methods Neuronal apoptosis inhibitory protein(NAIP) gene analysis was performed by PCR amplification of exon 5 in 13 unrelated SMA patients with deletions of SMN gene.Results Two Type Ⅰ patients(2/5,40%) lacked the NAIP exon 5.Conclusion The results suggest a possible correlation between NAIP gene deletion and the disease severity of SMA.