SMN2, a copy gene, influences the severity of SMA and may be used in somatic gene therapy of patients with SMA in the future. We present a new, fast, and highly reliable quantitative test, based on real-time LightCycler PCR that amplifies either SMN1 or SMN2. The SMN1 copies were ...
Spinal muscular atrophy is caused by a mutation in the survival 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 th...
研究表明 SMA 疾病表型受SMN2拷贝数的影响,高SMN2拷贝数能够产生大量有功能的 SMN 蛋白,对应较轻的 SMA 表型。携带 1 个拷贝SMN2基因的患者通常不会发展成为 III 型 SMA,携带 4 个拷贝SMN2基因的患者通常不会发展为 I 型 SMA,轻型(II、III、IV 型)SMA 患者的SMN2拷贝数显著高于重型(I 型)SMA 患者 [1...
Using gene dosage analysis, we determined the copy numbers of and in the general population as well as in SMA patients and carriers. Increased copy number is associated with decreased copy number in the general population; that is, copy number was decreased to one or zero copies in 11 of ...
The survival motor neuron gene is present in humans in a telomeric copy, SMN1, and several centromeric copies, SMN2. Homozygous mutation of SMN1 is associa... HM Hsieh-Li,JG Chang,YJ Jong,... - 《Nature Genetics》 被引量: 472发表: 2012年 Correction of SMN2 Pre-mRNA splicing by antise...
Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The protein encoded by this gene localizes to...
SMN2geneSpinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease. Most patients with SMA have a mutation in thesurvival motor neuron 1(SMN1) gene on chromosome 5q. With current genetic testing,SMN1copy number is determined; a diagnosis is reached when the copy number is ...
Mutations in the survival motor neuron gene ( SMN1 ) are determinant for the development of the disease whereas the number of copies of SMN2, the highly homologous copy of SMN1, plays a role as a phenotypic modifier factor. The detection of SMN1 homozygous deletions is the typical test for ...
In 98% of cases, there is a homozygous deletion of the survival of motor neuron 1 (SMN1) gene, and both parents carry the same heterozygous genetic abnormality in the majority of cases. Various population studies have been conducted to estimate the frequency of carriers and thereby identify ...
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...