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 ...
7和8外显子杂合缺失,母亲未检测到纯合或杂合缺失.结论 SMN1基因第7和(或)8外显子纯合缺失是SMA致病主要原因,SMN2基因拷贝数增加与SMA表型严重程度呈负相关.%Objective To study the relation between phenotype of spinal muscular atrophy( SMA ) in children and copy number variation of SMN1 and SMN2 gene...
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...
Genetic linkage analysis has mapped the SMA locus to chromosome 5q13 [1], [2] and the survival motor neuron (SMN) gene has been identified as the responsible genes for SMA [3]. Two highly homologous copies of SMN are present in SMA locus, namely, SMN1 and SMN2 [3], [4]. These ...
运动神经元存活基因1(survival motor neuron gene 1, SMN1)编码与之同名的蛋白。该蛋白与人类遗传病脊髓性肌萎缩(Spinal Muscular Atrophy, SMA)密切相关,该疾病大多数情况下会导致新生儿2周岁之前死亡。SMN1的单拷贝失活(无症状)现象在亚洲人群中大约是1/50,这就造成了1/10000左右的新生儿发病率(不同人种地域的突...
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...
Although these methods efficiently determine SMN1 and SMN2 gene copy numbers, most of the methods are based on fluorescent labels or hybridization assays, which are often susceptible to complication...Cusco I, Barcelo MJ, Baiget M, Tizzano EF. Implementation of SMA carrier testing in genetic ...
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...
SMA results from the loss of survival motor neuron 1 (SMN1) gene but retention of its paralog SMN2. The copy numbers of SMN1 and SMN2 are variable within the human population with SMN2 copy number inversely correlating with SMA severity. Current therapeutic options for SMA focus on increasing...