进行性脊髓性肌萎缩症患者神经元存活基国及神经元凋亡抑制蛋白基因的缺失

目的：研究中国人群中进行性脊髓性肌萎缩症（ｓｐｉｎａｌ ｍｕｓｃｕｌａｒ ａｔｒｏｐｈｙ,ＳＭＡ）患者中神经元存活基因（ｓｕｒｖｉｖａｌ ｍｏｔｏｒ ｎｅｕｒｏｎ,ＳＭＮ）外显子７及神经元调亡抑制蛋白基因（ｎｅｕｒｏｎａｌ ａｐｏｐｔｏｓｉｓ ｉｎｈｉｎｂｉｔｏｒｙ ｐｒｏｔｅｉｎ ｇｅｎｅ,ＮＡＩＰ）外显子５缺失情况,进一步探讨这２个ＳＭＮ基因外显子７区域和５５例患儿ＮＡＩＰ基因外显子５的缺失进行检测。结果：ＳＭＮ基因外显子７区域纯合缺失率分别为：ＳＭＡＩ型９２％（２３／２５）;Ⅱ型９０％（２７／３０）。患儿双亲中有２例母亲的１例父亲也有纯合缺失。在５５例ＳＭＡ患儿中未检测到有ＮＡＩＰ基因外显子５的纯合缺失,仅发现２例杂合性缺失。结论：中国人ＳＭＡ患者中ＳＭN

Survival motor neuron gene and neuronal apoptosis inhibitory protein gene deletion in patients with spinal muscular atrophy

OBJECTIVE: To investigate the frequencies of gene deletion survival motor neuron telomere (SMNTel) exon 7 and neuronal apoptosis inhibitory protein gene (NAIP) exon 5 in 55 Chinese spinal muscular atrophy (SMA) patients, and compare the relationship between these two candidate genes and the disease. METHODS: PCR-SSCP method was used to detect the deletion of SMNTel exon 7, direct visualization of PCR products by agarose electrophoresis was used to detect the deletion of NAIP exon 5 in 55 SMA patients with type I and type II. 40 normal individuals were involved in the study as controls. RESULTS: Homozygous deletion of the SMNTel exon 7 was identified in 92% (23/25) of SMA type I patients and 90% (27/30) of SMA type II patients. The same deletion was found in two mothers and one father of SMA patients. There was no homozygous deletion found in normal controls. None of the homozygous deletion of NAIP exon 5 was found in 55 SMA patients and normal controls. Only two patients were found to have the heterozygous deletion. CONCLUSIONS: The frequency of homozygous deletion of SMNTel exon 7 was 90.1%. Our data support that SMN gene is strongly associated with SMA.