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Founder Mutations

Scientific knowledge about founder mutations is becoming broader. While founder mutations set themselves apart from other mutations science is coming closer in being able to prevent and diagnose certain diseases caused by these mutations.
In order to gain an understanding of founder mutations one must know how mutations develop. Changes that occur haphazardly to the DNA are known as mutations. Typically damage to the DNA is not passed down but is rather mended or eradicated at the time of birth. Mutations that are passed on from generation to generation are known as germ-line mutations. Founder mutations are placed in this category but are unusual. This means that the mutation is not similar to any other mutation (Drayna 2006). Typical mutations affect people the same way but the damage to the gene is not the same in everyone. Founder mutations on the other hand have DNA damage that is identical to the founder. The DNA that is shared among people with a founder mutation is called a haploytpe (Drayna 2006). According to Drayna (2006) founder mutations can be easily passed on from generation to generation because carriers of the mutation lack symptoms. This results in millions of people not knowing that they may pass on a deadly disease to their offspring. Founder mutations are recessive which means that the people who suffer from the disease have two copies of the mutated gene, one from their mother and one from their father (Dryana 2007).
One deadly diseased that is caused by founder mutations is sickle-cell disease. Sickle cell is noted predominantly among African Americans and occurs when the key structure of hemoglobin is altered (Campbell, Reece & Simon 2007). According to Campbell, Reece & Simon the alteration of hemoglobin causes the cells to crystallize which results in the sickle shape of normal red blood cells (refer to diagram on last page). When the cells become sickled in shape they are not able to flow through the body normally and...

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