人类SMN基因分为SMN1和SMN2, SMN1基因位于端粒侧，转录后产生全长mRNA，SMN2基因位于着丝粒侧，SMN2基因与SMN1基因在外显剪接增强子处有一个核苷酸的差异，从而使得转录后的SMN2缺失第7个外显子，编码截断的SMN蛋白，截断的SMN蛋白丧失全长SMN蛋白的功能，并且在细胞内迅速降解。生理状态下，SMN2 mRNA的第7个外显...
Survival motor neuron SMN1 and SMN2 gene promoters: identical sequences and differential expression in neurons and non-neuronal cells - Boda, Mas, et al. - 2004 () Citation Context ...tive to other tissue under SMA conditions. This decrease in SMN production in the spinal cord may be ...
5）months．In 37patients with deletions in SMN1gene ，exon 7and /or 8had 2copies in SMN2gene in 18cases ，the average age of onset was （4．9ʃ3．9）months．13out of 18cases （72．2%）were type Ⅰ，5cases （27.8%）were type Ⅱ．There were 19patients with increased SMN2gene ...
领航基因利用自主研发的多色荧光通道数字 PCR 平台,针对SMN基因设计特异性引物探针,进行绝对定量分析。从基因组DNA提取、微滴制备、PCR 扩增到芯片阅读分析,全流程在3小时内完成SMN1和SMN2基因拷贝数分析,相比于常规检测方法,数字PCR解决方案覆盖位点全、定量结果精准、操作便捷。
The human SMN1 and SMN2 gene promoters are nearly identical in sequence and activity [9,10]. From:Neurobiology of Disease,2007 Related terms: Spinal Muscular Atrophy Charlotte J.SumnerMD,Kenneth H.FischbeckMD, inNeurobiology of Disease, 2007 ...
将相应深度矩阵合并到一起生成最终样本的深度矩阵文件;对所述深度矩阵文件进行数据校正,得到校正后的矩阵文件,将矩阵文件每行取平均数或中位数,用测试样本的某个扩增子所在行的平均数或中位数,除以对照样本对应于测试样本的某个扩增子所在行的平均数或中位数,得到比值,根据比值结果判断SMN1和SMN2的拷贝数变异结果....
Spinal muscular atrophy is caused by a mutation in thesurvival motor neuron 1(SMN1)gene. This gene is responsible for producing survival motor neuron (SMN) protein, which maintains the health and normal function of motor neurons. In individuals with spinal muscular atrophy, both copies of theSMN1...
study the relation between phenotype of spinal muscular atrophy( SMA ) in children and copy number variation of SMN1 and SMN2 gene. Methods Using genomic DNA multiplex ligation-dependent probe amplification ( MLPA ) the copy number variations of exon 7 and 8 of SMN1 and SMN2 ...
SMA患者的2条5号染色体上均没有正常的SMN1基因,而SMA携带者的2条5号染色体上至少有1个拷贝正常的SMN1基因。SMN1的突变包括7号或8号外显子缺失以及点突变等类型,其中95%以上为7号或8号外显子缺失。SMN1与影响SMA严重程度和进展的修饰基因S...
Inverse correlation between SMN1 and SMN2 copy numbers: evidence for gene conversion from SMN2 to SMN1. Inverse correlation between SMN1 and SMN2 copy numbers: evidence for gene conversion from SMN2 to SMN1. Eur J Hum Genet 2003;11:275-7.Ogino S, Gao S, Leonard DGB, Paessler M, Wilson...