11.Amara A, Adala L, Charfeddine I B , et al. Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients[J]. European Journal of Paediatric Neurology Ejpn Official Journal of the European Paediatric Neurology Society, 201...
copy number.Therewere12,l7,8andl samples in明坍W: 刷旧忆=l:2,l:3,1:1andl:4 group,respectively.All the4 groupsbelonged toSMA carrierandthe populationfrequency iS2.22%.Therewere993and461 samples in 2:2and2:1 group,respectively.The ...
SMN2基因拷贝数增加与SMA 表型严重程度呈负相关。关键词脊肌萎缩症；SMN1基因；SMN2基因；拷贝数变异Copy number variation of SMN1and SMN2genes in spinal muscular atrophy and analysis of its clinical significance WANG Ji 1，3，AN Yu 2，3，ZHOU Shui-zhen 1，WANG Yi 1，LIU Ren-chao 2（1Department...
本发明基于多重pcr高通量测序的panel数据,开发了一种分析smn1和smn2拷贝数变异的分析方法,可在cnv(copy number variations,拷贝数目变异)检测流程中增加对同源区域的检测,辅助对smn1和smn2基因拷贝数检测结果的判读,可稳定以及准确的检测smn1和smn2基因上拷贝数变化。 [0007] 为达到此发明目的,本发明采用以下技术方案...
1例患儿父亲为SMN1基因第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 ...
Cat. Number: Anti-SMN1抗体KL-4628R Quantity size: 0.2ml Concentration: 1mg/ml Buffer = 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Background: SMN1 is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four ...
Copy number SMN1 CN=0 SMN2 CN=3 Definition SMN1 Loss SMN2 gain MLPA Result Graph Product Information Intended Use Research Use Only Unit Size 1ug Concentration Download for COA Purity Download for COA DNA electrophoresis Download for COA Sanger sequencing Download ...
Excellent concordance ofSMN1andSMN2copy number results to sites’ in-house methods for over 500 replicates (Figure3) High assay specificity permits detection ofSMN1–SMN2hybrid peaks, including those resulting from gene conversion events (Figure 4) ...
It is well-known that high copy number of its homologous gene, SMN2, modifies the phenotype of SMN1-deleted patients. However, in the patients with intragenic SMN1 mutation, the relationship between phenotype and SMN2 copy number remains unclear. Methods We have analyzed a total of 515 ...
SMN1 copy number analysis for the family of Case 3. 1A The pedigree of the family of Case 3. 1B: Exon 7 PCR-RFLP Polyacrylamide gels showing the undigested and digested products of SMN exon 7 after Dra I digestion. Lane 1, undigested product of patient; Lane 2, digested product of ...