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 ...urgery (4 individuals, Figures 6 A to D). Even though LT-SMN transcripts derived from the SMN1 or SMN...
脊髓性肌萎缩症（spinal muscular atrophy，SMA）是由于运动神经元存活基因1（survival motor neuron gene 1, ）突变导致SMN蛋白功能缺陷所致的遗传性神经肌肉病，遵循常染色体隐性遗传模式。SMA患者脊髓前角运动神经元退化变性和丢失，会导致肌无力和骨骼肌萎缩，肢体麻痹，呼吸衰竭和死亡。SMA的发病率约为1/6000-10000...
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个外显子在有...
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 ...
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 ...
A Genomic structure of normal SMN genes and three types of genomic structures of the hybrid SMN genes identified in this study. B SMN1-to-SMN2 gene conversion. Dotted line frames SMN2 sequence. SMN1, survival motor neuron 1; SMN2, survival motor neuron 2 Full size image...
To enhance the clinical sensitivity of SMA diagnostic testing, we present an optimized gene-specific sequencing assay to localize variants to either SMN1 or SMN2. Methods. SMN1 and SMN2 genes are independently amplified by long-range allele-specific PCR. Long-range products are ...
The SMN1 gene is a SMA-determining gene and homozygously deleted in most patients, whereas an identical copy gene, SMN2 , represents an SMA-modifying gene. Methods: We applied capillary electrophoresis (CE) to quantify the SMN1 / SMN2 gene dosage in 163 normal individuals, 94 SMA patients ...
doi:10.1016/S0387-7604(01)00234-0elsevierBrain & DevelopmentDiep Tran, T., et al. (2001) The gene copy ratios of SMN1/SMN2 in Japanese carriers with type I spinal muscular atrophy, Brain Dev, 23, 321-326.
Genetics Targeted gene alteration in SMA patient cells| Genetic conversion of an SMN2 gene to SMN1 increases full-length SMN production UNIVERSITY OF DELAWARE Eric B. Kmiec CallahanStephanieSpinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease that is characterized by the loss ...