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 tend to become stuck in the blood vessels. The authors go on to write that the accumulation of red blood cells causes a reduction of blood to much needed body parts which also in return means that the organs are not receiving oxygen causing them to not work properly. When the red blood cells are not able to flow through the body the process of oxygenation and deoxygenation is not able to take place. When red blood cells function normally they carry oxygen to organs and tissue in the body (Campbell et al. 2007). Red blood cells assist in the process of oxygenation and deoxygenation. Oxygenation occurs when hemoglobin in the lungs reacts with oxygen and releases carbon dioxide. When this process is reversed it is known as deoxygenation (Krimm 2007). The lungs, liver, muscles, brain and spleen are only a few places that are affected by the blocking of sickle cells. Currently there is no known cure for sickle cell disease, but medication or blood transfusions may help the patient with the symptoms that they may experience (Brenman 2007: Krimm 2007).

Many people wonder how scientists are able to determine the age of the mutation. The haplotype, DNA that is shared with the founder mutation, is the key to determining the age of the mutation. The founder mutations haplotype is the entire chromosome including the mutation (Drayna 2007). As the mutation is passed on the haplotype continues to become

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