Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet. 2002;70(2):358-68. doi:10.1086/338627.Feldko€tter M, Schwarzer V, Wirth R, et al. Quantitative ...
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...
Gestational outcomes of pregnant women who have had invasive prenatal testing for the prenatal diagnosis of spinal muscular atrophy A similar approach has been shown to distinguish copy number changes between the 2 highly homologous genes, SMN1 and SMN2 (Bio-Rad). Allele-Specific Droplet Digital PCR...
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 ...
Inverse correlation between SMN1 and SMN2 copy numbers: evidence for gene conversion from SMN2 to SMN1. S, Leonard DG, Paessler M, Wilson RB (2003) Inverse correlation between SMN1 and SMN2 copy numbers: evidence for gene conversion from SMN2 to SMN1. ... Shuji,Ogino,Sizhen,... - 《...
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 ...
The SMN2 gene has a similar structure to SMN1, but only a small amount (10%) of the SMN protein it produces is fully functional. This low level of SMN protein is not effective enough to sustain the survival of motor neurons in the CNS. The number of SMN2 genes may vary, and a ...
Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Mu... Spinal muscular atrophy (SMA) is a common autosomal recessive disorder in humans, caused by homozygous absence of the survival motor ...
Figure 2.AmplideX PCR/CESMN1/2Plus Kit Testing Workflow Figure 3.Reproducibility ofSMN1andSMN2copy number reporting across sites for over 500 replicates. Figure 4.Detection and differentiation ofSMN1andSMN2hybrid peaks. Figure 5.Agreement between AmplideX PCR/CESMN1/2 Plus Kit and Sanger sequencin...
Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet 2002;70:358–368. Article Google Scholar Lorson CL, Hahnen E, Androphy EJ, Wirth B. A single ...