Introduction
Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in SMN1 (encoding survival motor neuron protein (SMN)). SMN1 is primarily responsible for making survival motor neuron (SMN) protein, which is required for maintaining normal, motor neuron function. Without enough SMN protein, motor neurons will degenerate, causing progressive loss of controlled muscle movement. Typically, the earlier the onset of the disease, the more severe the symptoms. Without early detection and treatment, SMA can also result in premature death.
The worldwide incidence of SMA is ~1 in 10,000 live births or ~7.8–10 in 100,000 live births. Besides, the age of onset of this disease is possible from infant to adult, its incidence rate is 1/10000~1/6000, and the population carrying rate is 1/60~1/40. According to statistics, about 95% of SMA patients showed homozygous deletion of exon 7 and/or 8 of SMN1 gene. Access to preconception carrier screening, prenatal diagnosis and application of advanced reproductive technologies is likely to lower the incidence of SMA in many parts of the world.
The BioPerfectus SMN1 Gene Detection Real Time PCR Kit is a real-time PCR research assay for the qualitative analysis of SMN1 exon 7/8 deletions and copy number in research samples (EDTA blood).
Features
- Comprehensive Profiling: Effectively differentiating diverse biological cohorts, including active hosts, natural carriers, and baseline reference groups.
- Resource-Efficient Platform: Leveraging advanced nucleic acid amplification methodologies to maximize analytical throughput while minimizing operational costs.
- ΔΔCt Analytical Approach: Eliminating serial dilution discrepancies associated with standard curve generation to ensure precise relative quantification.
Parameters
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LOD
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5 ng/μL
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Nucleic Acid Volume
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5 μL
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Sample Type
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human EDTA anticoagulated blood samples
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Testing Time
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80 min
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Storage Temperature
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-20±5℃
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Shelf-life
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12 months
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| Catalog |
Product
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Package
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JGM10201NW-25T
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Survival Motor Neuron 1 (SMN1) Gene Detection Real Time PCR Kit
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25T/Kit
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JGM10201NW-50T
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50T/Kit
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Regulatory Disclaimer
For Research Use Only. Not for use in diagnostic procedures.
Reference:
- Mercuri, E., Sumner, C.J., Muntoni, F. et al. Spinal muscular atrophy. Nat Rev Dis Primers 8, 52 (2022). http://doi-org.ypl.ilibs.cn/10.1038/s41572-022-00380-8
- Ogino, S., Leonard, D. G., Rennert, H., Ewens, W. J. & Wilson, R. B. Genetic risk assessment in carrier testing for spinal muscular atrophy. Am. J. Med. Genet. 110, 301–307 (2002).
- Sugarman, E. A. et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. Eur. J. Hum. Genet. 20, 27–32 (2012).
- https://www.cdc.gov/nceh/dls/nsmbb_sma.html
