脊髓性肌萎缩症患者生存运动神经元基因和神经元凋亡抑制蛋白基因缺失

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

作者信息

Ma S, Yuan L, Liu T, Yang T, Zhou W, Wu H

机构信息

Department of Medical Genetics, Institute of Basic Medical Sciences, CAMS and PUMC, Beijing 100005, China.

出版信息

Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2000 Dec;22(6):551-4.

PMID:12903402

Abstract

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.

摘要

目的

研究55例中国脊髓性肌萎缩症（SMA）患者中生存运动神经元端粒（SMNTel）基因第7外显子和神经元凋亡抑制蛋白基因（NAIP）第5外显子的缺失频率，并比较这两个候选基因与该疾病的关系。

方法

采用聚合酶链反应-单链构象多态性（PCR-SSCP）法检测55例Ⅰ型和Ⅱ型SMA患者中SMNTel基因第7外显子的缺失情况，用琼脂糖凝胶电泳直接观察PCR产物检测NAIP基因第5外显子的缺失情况。40名正常个体作为对照参与本研究。

结果

在92%（23/25）的Ⅰ型SMA患者和90%（27/30）的Ⅱ型SMA患者中检测到SMNTel基因第7外显子的纯合缺失。在SMA患者的两位母亲和一位父亲中也发现了同样的缺失。正常对照中未发现纯合缺失。55例SMA患者和正常对照中均未发现NAIP基因第5外显子的纯合缺失。仅发现2例患者存在杂合缺失。