Spinal muscular atrophy silent carrier 2+0 detector

Description

The project aims to detect 2+0 silent carriers of SMA by analyzing nucleotide ratios. Long-range PCR amplifies the SMN1 gene region with fluorescent dNTPs. Differences in fluorescence ratios between carriers and normals indicate carrier status. This approach facilitates early identification and genetic counseling for SMA carriers.

Acknowledgements

References

Milligan, J. N., Blasco-Pérez, L., Costa-Roger, M., Codina-Solà, M., & Tizzano, E. F. (2022). Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows. Genes, 13(9), 1657. https://doi.org/10.3390/genes13091657 Hastings, P. J., Lupski, J. R., Rosenberg, S. M., & Ira, G. (2009). Mechanisms of change in gene copy number. Nature reviews. Genetics, 10(8), 551–564. https://doi.org/10.1038/nrg2593 Prior, T. W., Nagan, N., Sugarman, E. A., De Batish, S. v., & Braastad, C. (2011). Technical standards and guidelines for spinal muscular atrophy testing. Genetics in Medicine, 13(7), 686–694. https://doi.org/10.1097/gim.0b013e318220d523 Butchbach M. E. (2016). Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases. Frontiers in molecular biosciences, 3, 7. https://doi.org/10.3389/fmolb.2016.00007 Blauw, H. M., Barnes, C. P., van Vught, P. W., van Rheenen, W., Verheul, M., Cuppen, E., Veldink, J. H., & van den Berg, L. H. (2012). SMN1 gene duplications are associated with sporadic ALS. Neurology, 78(11), 776–780. https://doi.org/10.1212/WNL.0b013e318249f697 White, C. E., & Weissler, Alfred. (1972). Fluorometric analysis. Analytical Chemistry, 44(5), 182–206. https://doi.org/10.1021/ac60313a031 Śpibida, M., Krawczyk, B., Olszewski, M. et al. Modified DNA polymerases for PCR troubleshooting. J Appl Genetics 58, 133–142 (2017). https://doi.org/10.1007/s13353-016-0371-4 Thermo Scientific Phusion DNA polymerases. (n.d.). https://assets.thermofisher.com/TFS-Assets/LSG/brochures/phusion-dna-polymerase-brochure.pdf Biolabs, N. E. (n.d.). Long range PCR. NEB. https://www.neb.com/en/applications/dna-amplification-pcr-and-qpcr/specialty-pcr/long-range-pcr

Get started with this template for free

Don’t start from scratch.

Create professional scientific illustrations quickly and easily, even without any design expertise

Get started with a huge library of editable icons and templates such as common biological pathways, anatomy, or genetics.
Create figures that effectively communicate your research in half the time using our editable icons.
Use our PDB tool to quickly generate and customize protein structures

Get started now