Step-Wise Approach for In Silico CRISPR-Cas9 Gene Editing of IVS I- 110 and IVS I-6 Beta-Thalassemia-Causing Variants
Amr, K., Rabie, E., Dawood, R., El-Kamah, G. (2024). Step-Wise Approach for In Silico CRISPR-Cas9 Gene Editing of IVS I- 110 and IVS I-6 Beta-Thalassemia-Causing Variants. EKB Journal Management System, 67(12), 503-511. doi: 10.21608/ejchem.2024.304964.10042
Khalda Said Amr; Eman Abdelalim Rabie; Reham Dawood; Ghada El-Kamah. "Step-Wise Approach for In Silico CRISPR-Cas9 Gene Editing of IVS I- 110 and IVS I-6 Beta-Thalassemia-Causing Variants". EKB Journal Management System, 67, 12, 2024, 503-511. doi: 10.21608/ejchem.2024.304964.10042
Amr, K., Rabie, E., Dawood, R., El-Kamah, G. (2024). 'Step-Wise Approach for In Silico CRISPR-Cas9 Gene Editing of IVS I- 110 and IVS I-6 Beta-Thalassemia-Causing Variants', EKB Journal Management System, 67(12), pp. 503-511. doi: 10.21608/ejchem.2024.304964.10042
Amr, K., Rabie, E., Dawood, R., El-Kamah, G. Step-Wise Approach for In Silico CRISPR-Cas9 Gene Editing of IVS I- 110 and IVS I-6 Beta-Thalassemia-Causing Variants. EKB Journal Management System, 2024; 67(12): 503-511. doi: 10.21608/ejchem.2024.304964.10042

Step-Wise Approach for In Silico CRISPR-Cas9 Gene Editing of IVS I- 110 and IVS I-6 Beta-Thalassemia-Causing Variants

Egyptian Journal of Chemistry
Volume 67, Issue 12, December 2024, Page 503-511  XML PDF (2.61 MB)
Document Type: Original Article
DOI: 10.21608/ejchem.2024.304964.10042
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Authors
Khalda Said Amr email 1; Eman Abdelalim Rabie2; Reham Dawood3; Ghada El-Kamah4
1Medical Molecular Genetics Department, National Research Centre, El-Buhouth St., Dokki, 12622 Cairo, Egypt
2Medical Molecular Genetics Department, Human Genetics & Genome Research Division (HGGR), National Research Centre (NRC), Cairo 12622
3Microbial Biotechnology Department, National Research Centre, Dokki, Cairo, Egypt
4Clinical Genetics Department, Human Genetics & Genome Research Division (HGGR), National Research Centre (NRC), Cairo 12622, Egypt
Abstract
β-thalassemia is a common monogenic blood disorder caused by disease-causing variants, mostly point mutations in the HBB gene. In Egypt, it is the most common hemoglobinopathy with a minor allele frequency of 0.03 and a carrier rate varying between 5.3 to more than 9% creating a major social and financial burden for the patients, their family, and the society in general. The current study aims to design a guide RNA to target the most common mutations identified among B Thalassemia patients. By using the human variation viewer database, two mutations within the HBB gene have been selected. By computational tools, two guide RNA have been designed and showed a high-efficiency score towards the desired mutations. The selected two gRNA were successfully cloned into a synthetic plasmid(PX459).

The data successfully established a step-wise in-silico approach for designing a CRISPR/Cas9 gene editing model for the correction of IVS I-110 (G>A, rs35004220) and IVS I-6 (T>C, rs35724775) variants in HBB gene.
Keywords
CRISPR-cas9; gene editing; insilico study; β-thalassemia
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