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, Pages 503-511 PDF (2.61 M) | ||
| Document Type: Original Article | ||
| DOI: 10.21608/ejchem.2024.304964.10042 | ||
| Authors | ||
| Khalda Said Amr* 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 | ||
|
Statistics Article View: 456 PDF Download: 355 |
||
