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...
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 ...
[1]Jin He,Qi-Jie Zhang,Qi-Fang Lin,Ya-Fang Chen,Xiao-Zhen Lin,Min-Ting Lin,Shen-Xing Murong,Ning Wang,Wan-Jin Chen. Molecular analysis of SMN1 , SMN2 , NAIP , GTF2H2 , and H4F5 genes in 157 Chinese patients wi...
We were able to determine all genotypes with different SMN1/SMN2 gene copy number ratios, which unambiguously diagnosed carrier status and the severity of SMA with 100% specificity. Conclusions: This quantitative genotyping platform is suitable for detection of SMA. The described approach may serve ...
Objective: To 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 were ...
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 ...
We were able to determine all genotypes with different SMN1/SMN2 gene copy number ratios, which unambiguously diagnosed carrier status and the severity of SMA with 100% specificity. CONCLUSIONS: This quantitative genotyping platform is suitable for detection of SMA. The described approach may serve ...
Absence of the SMN1 gene has been reported in approximately 94% of clinically typical SMA-affected patients and results in the absence of more functional protein [9, 10]. The absence of SMN1 indicates the deletion of a whole SMN1 gene or gene conversion between SMN1 and SMN2 [10]. There ...
9.He J , Zhang Q J , Lin Q F , et al. Molecular analysis of SMN1, SMN2, NAIP, GTF2 H2, and H4F5 genes in 157 Chinese patients with spinal muscular atrophy[J]. Gene, 2013, 518(2):325-329. 10.Qu Y J , Bai J L , Cao Y Y , et al. Mutation Spectrum of the Survival...
(survival motor neuron gene,SMN1)突变及临床症状相关的修饰基因缺失.鉴于一般SMN1基因外显子7和(或)外显子8的纯合缺失可诊断为SMA,加上SMN2基因作为修饰因子在疾病分型和严重程度上有重要作用,临床上有必要对SMN1外显子7和SMN2拷贝数的定量来区分SMA患者,携带者及正常人,并预测表型的严重程度.然而目前,针对SMA...