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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