Current Pediatric Research

Objective: Number of evidence suggests that tetralogy is associated with different genetic factors. Therefore, this research was designed to estimate the potential role of genetic variations in some mitochondrial genes mtCOX1 and their association with disease. Materials and Methods: The study included 20 patients with tetralogy of fallot and 20 healthy volunteers as a comparison group. The results of the molecular analysis showed that there are thirteen mutations in the mtCOX1 gene, of which eight are not previously recorded. The variations were as follows: transition of G>C at locations: 6690, 6825 and G>A at locations: 6915, 6917, 6261 and transformation of G>T at locations: 6899, 6922, the transversion of T>C at locations: 6632, 6297 and T>G in a location: 6674 and A>T at locations: 6843 and 6804. Results: Deletion of a nitrogenous base (C) at site 6927 del C. This variance was recorded at the National Center for Biotechnology Information clinical variation (NCBI) with accession number (SCV000845754). Conclusion: Genetic differences in the mtCOX1 gene, such as deletion, insertion and substitution, have led to mutations that have transformed the reading frame that may be a genetic risk factor for tetralogy of fallot.

Author(s): Ali Jumhaa Alhussona*, Aqeel S Almandel, Makarim M Ali, Faizah AW Ahmed, Najim A Jabir Al Awwadi

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