进行性脊髓性肌萎缩症患者神经元存活基因及神经元凋亡抑制蛋白基因的缺失  

Survival Motor Neuron Gene and Neuronal Apoptosis Inhibitory Protein Gene Deletion in Patients with Spinal Muscular Atrophy

作　　者：马素参[1] 袁丽芳[1] 刘天慈 杨涛[1] 周文敏 吴沪生 

机构地区：[1]中国医学科学院中国协和医科大学基础医学研究所医学遗传室,北京100005 [2]Beijing Children's Hospital Affiliated to Capital University of Medical Science

出　　处：《中国医学科学院学报》2000年第6期551-554,共4页Acta Academiae Medicinae Sinicae

基　　金：卫生部科学研究基金(94-1-D12)

摘　　要：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及神经元凋亡抑制蛋白基因（ neuronal apoptosis inhibitory protein gene, NAIP）外显子 5缺失情况，进一步探讨这 2个 SMA候选基因与 SMA的关系。方法应用 PCR- SSCP分析技术对 55个 SMA患儿家系及 40例正常人个体的 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： SMA I型 92％（ 23/25）；Ⅱ型 90％（ 27/30）。患儿双亲中有 2例母亲和 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基因外显子 7的纯合缺失率高，而在正常人中未见有缺失，表明其与 SMA发生密切相关； NAIP基因外显子 5的杂合性缺失率在本实验中仅约为 4％。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 typeⅠ and typeⅡ . 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 typeⅡ 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.

关 键 词：脊肌萎缩症 神经元存活基因 神经元凋亡抑制蛋白基因 单链构象多态性 

分 类 号：R746.402[医药卫生—神经病学与精神病学]