PCR-RFLP, Sequencing, and Quantification in Molecular Diagnosis of Spinal Muscular Atrophy: Limits and Advantages

被引：0
作者：
K. Hamzi
H. Bellayou
M. Itri
S. Nadifi
机构：
[1] Medical School,Medical Genetic Laboratory and Molecular Pathology
[2] PIII,Pediatrics Department
[3] CHU Ibn Rochd,undefined
来源：
Journal of Molecular Neuroscience | 2013年 / 50卷
关键词：
SMA; SMN1; SMN2; Quantification;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Spinal muscular atrophy (SMA) is a severe neuromuscular disease. It is a common cause of infant mortality. Its incidence is estimated at 1 in 10,000. Clinically, age of onset and the symptoms can distinguish four types of SMA. The objective of this study is to make available to clinicians a reliable and reproducible test for the molecular diagnosis of SMA. We evaluate the benefits and limitations of three tests used in our laboratory (RFLP-PCR, sequencing, and qPCR).
引用
收藏
页码：270 / 274
页数：4
相关论文
共 67 条
[1]  
Brichta L(2006)In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate Ann Neurol 59 970-975
[2]  
Holker I(1998)Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP Genomics 48 121-127
[3]  
Haug K(1998)Sequence ofa 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP Genomics 48 121-127
[4]  
Klockgether T(2002)Quantitative analyses of SMN1 and SMN2 based on real-time light Cycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy Am J Hum Genet 70 358-368
[5]  
Wirth B(1997)Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number Am J Hum Genet 60 1411-1422
[6]  
Chen Q(1999)A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2 Hum Mol Genet 8 1177-1183
[7]  
Baird SD(2001)The predictive value of achieved motor milestones assessed in 441 patients with infantile spinal muscular atrophy types II and III Eur Neurol 45 174-181
[8]  
Mahadevan M(2006)Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number Hum Genet 119 422-428
[9]  
Besner-Johnston A(2006)Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number Hum Genet 119 422-428
[10]  
Farahani R(1995)Natural history in proximal spinal muscular atrophy. Clinical analysis of445 patients and suggestions for a modification of existing classifications Arch Neurol 52 518-523
1234567