Lu Li-ping, Ma Hong-wei, Jiang Jun, Wang Tao, Hu Bin
Laboratory Medicine, Shengjing Hospital, China Medical University, Shenyang, Liaoning, 110004 PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Apr;24(2):144-7.
To detect the correlation between the clinical phenotype of spinal muscular atrophy (SMA) and survival motor neuron gene (SMN2) copy number.
The SMN2 gene copy numbers of 57 different types of SMA were detected by real-time fluorescence quantitative PCR method with TaqMan technique.
Average SMN2 copy number was 1.017 +/- 0.090, 2.019+/- 0.080, 3.104+/- 0.170 in predicting one, two, three copy numbers, respectively, and CV was 8.9%, 3.9%, 5.4%, respectively. Average SMN2 copy number was 1.926+/- 0.460, 2.508+/- 0.460, 2.876+/- 0.270, in type I, II and III SMA, respectively. The SMN2 gene copy number in type II and III SMA were higher than that of type I SMA (P < 0.01). The SMN2 gene copy number in type III SMA was higher than that of type II SMA (P < 0.01). 85.72% of type I SMA patients usually had 2 SMN2 copies; 40% and 60% of type II SMA patients had 2 and 3 SMN2 copies, respectively; 82% of type III SMA patients had 3 SMN2 copies.
There is significant correlation between the change of SMA clinical phenotype and SMN2 cope number. The distributions of the SMN2 gene copy number are various in different types of SMA patients. All types of SMA patients have at least one copy SMN2. The SMN2 gene copy numbers in type II, III SMA are higher than that of type I. All of these findings suggest that the severity of SMA patients depend on the change of the SMN2 copy numbers.
检测脊髓性肌萎缩症（SMA）临床表型与生存运动神经元基因（SMN2）拷贝数之间的相关性。
采用TaqMan技术的实时荧光定量PCR法检测57例不同类型SMA的SMN2基因拷贝数。
预测1、2、3个拷贝数时，平均SMN2拷贝数分别为1.017±0.090、2.019±0.080、3.104±0.170，变异系数分别为8.9%、3.9%、5.4%。Ⅰ型、Ⅱ型和Ⅲ型SMA的平均SMN2拷贝数分别为1.926±0.460、2.508±0.460、2.876±0.270。Ⅱ型和Ⅲ型SMA的SMN2基因拷贝数高于Ⅰ型SMA（P<0.01）。Ⅲ型SMA的SMN2基因拷贝数高于Ⅱ型SMA（P<0.01）。85.72%的Ⅰ型SMA患者通常有2个SMN2拷贝；40%的Ⅱ型SMA患者有2个SMN2拷贝，60%有3个SMN2拷贝；82%的Ⅲ型SMA患者有3个SMN2拷贝。
SMA临床表型变化与SMN2拷贝数之间存在显著相关性。不同类型SMA患者中SMN2基因拷贝数分布各异。所有类型的SMA患者至少有1个SMN2拷贝。Ⅱ型、Ⅲ型SMA的SMN2基因拷贝数高于Ⅰ型。所有这些发现表明，SMA患者的严重程度取决于SMN2拷贝数的变化。
