La Prensa MedicaISSN: 0032-745X

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The effect of genetic mutations on the human body

A mutation is a genetic change in which the biological traits of some individuals in a species change. In other words, mutation in the science of genetics A mutation is a change in the genetic material that leads to a change in the function of a gene or a defect in that gene. The effect of a mutation depends on the region of the genetic material sequence in which the mutation took place. The simplest mutation is a mutation that replaces or replaces one base pair with another base in a gene that has no effect on the amino acid sequence of the protein in that gene. On the other hand, the most harmful mutations can be deleted mutations that lead to the production of unusable and defective gene products or proteins. Abnormalities resulting from genetic mutations: 1- Muscular dystrophy: It is a disease that occurs as a result of large-scale mutations in which the motor muscles of the body are weakened. Sickle cell anemia: Named because of the effect it has on the shape and structure of red blood cells. The detrimental effect of this type of red blood cells is seen in the form of disruption of the blood clotting process, anemia, swelling and inflammation of the hands and feet, bacterial infections, and so on. (Klinefelter Syndrome), also known as XXY Syndrome, is a genetic mutation in which a male has an extra X chromosome in his genome, meaning that he has the genotype of Article XX. In addition to its male genotype, it has XY on its chromosomes. Because of this, men with Klein-Felter syndrome often have feminine features, such as breast tissue, and may not be able to reproduce.

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