1. You mention frameshift, substitution, insertion, and deletion mutations. Can you give an example of a genetic disease associated with each? What kinds of symptoms present for these?
2. Can you identify a genetic mutation that would occur in the human body,also how might this mutation change the human body in a negative or positive way in terms of function or change?
1. Frameshift mutation can be the cause of Tay-sachs diseases. Symptoms of this disease are the degeneration of the body mentally and physically, which begin to appear around 6 months of age and usually result in death by age 4. Insertion and deletions essentially cause frameshifts and either the insertion or deletion mutation can cause Huntington’s disease and Fragile X Syndrome. Symptoms of Huntington’s disease are muscular degeneration and mental degernation because it causes brain cells to die off. In Fragile X syndrome, males will become mentally challenged, whereas females are less affected. Substitution, or point mutation can be the cause of sickle cell disease. Symptoms of sickle cell anemia include being prone to illness and being very weak.
2. There is a mutation that is classified as “polymorphisms in the coagulation factor VII gene”, and it has a positive benefit to humans. If people have this mutation they are less likely to have heart attacks, also known as myocardial infractions. This mutation will surely decrease a person’s risk for heart disease and other associated heart problems. Please click the green button so I receive credit for my work.