The role of coding and non-coding DNA regions in the development of genetic disorders
DOI:
https://doi.org/10.13112/pc.1047Keywords:
GENETIC DISEASES, INBORN, INTRONS, EXONS, CHROMOSOME STRUCTURESAbstract
Objective: This review article examines the role of coding and non-coding regions of the human genome in the development of genetic disorders, with a particular focus on different types of genetic variants and their mechanisms of action.
Methods: A comprehensive analysis of the available scientific literature was conducted, focusing on the impact of single nucleotide variants, insertions, deletions, and copy number variations in both coding and non-coding regions of the genome. Special attention was given to mechanisms such as alterations in protein structure and function, regulation of gene expression, and effects on mRNA stability.
Results: Coding variants, including synonymous, nonsense, and missense variants, can significantly affect the structure, function, and stability of proteins, leading to various genetic disorders. Non-coding variants, located in cis- and trans-regulatory elements, play a crucial role in the regulation of gene expression, genome organization, and stabilization. Variants in non-coding regions can influence gene splicing, transcription, translation, and RNA stability, all of which may contribute to different pathological conditions.
Conclusion: Understanding the impact of genetic variants in coding and non-coding regions of the genome is essential for a deeper insight into the mechanisms of pathogenesis and the genetic basis of numerous diseases. The inclusion of non-coding variants in research could contribute to improved diagnostic and therapeutic approaches in medicine.
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