Monday, October 21, 2013

Founder Mutation


            Founder Mutations are changes in the DNA which are inherited future generations. These mutations first occurred in an individual, the founder and were later passed on. These mutations occurred through the process of evolution, to protect against more dangerous and deadly diseases. For example, Sickle-cell anemia originated in Africa to protect against deadly malaria. Sickle- cell anemia makes the red blood cells less hospitable, and malaria only thrives in healthy red blood cells.

            Unlike Founder mutations, hotspot mutations are spontaneous mutations of genes in individuals, individuals who have these mutations are not related to one another and do not share the same DNA. People who have founder mutations have similar DNA because they share a common ancestor.

            When an individual has one copy of the mutant gene they have a better chance of survival than those who have no copies. Individuals with two copies of the mutant gene will probably die before they could reproduce. This is called balancing selection.
 

            The chromosome region surrounding the mutant gene, the haplotype, gets shorter over generations due to recombination of chromosomes. Geneticists can use the haplotypes to trace the origin of a certain population and its migration. By tracing back the founder mutation to a certain region and time in history, geneticists can find when the mutation began and the reason the mutation started.

            The knowledge of founder mutations is valuable to physicians in identifying the types of diseases to test for depending on the ethnicity of an individual. For example, African Americans are more susceptible to Sickle- cell anemia, since the population has become more mixed the study of genes became very important for physicians to establish proper treatment depending on every individual’s DNA. The studies of founder mutations help geneticists find the origins of humans and its migration. In addition, it helps doctors and physician diagnose and treat diseases.

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