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Biology Seese
Period 2
Maddie Davies

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Autosomal Dominant Polycystic Kidney Disease

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Autosomal Dominant Polycystic Kidney Disease

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This is a specific type of kidney disease that is passed down from the parents to the child and is a dominant allele. This genetic disorder causes cysts (filled with fluid) to develop in the kidneys. This then fills the space in the kidneys and can lead to kidney damage or failure, which then results in the need to go on dialysis or to receive a kidney transplant. This disease is usually onset and develops when the person is older and on average, they will be in kidney failure by age 60.

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Tay-Sachs is a genetic mutation that occurs on the 15th chromosome and affects the HEXA genes. This is passed down through the parents and is autosomal recessive. The nervous system is affected in this process and there is an absence of an enzyme that breaks down lipids in the tissue of the central nervous system. The fats begin to build up and then begin to affect the brain and the function of nerves. The ability to walk and other motor functions begin to become difficult.

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This is a fairly common mutation that occurs in the 7th chromosome and affects the gene that codes for the protein called the cystic fibrosis transmembrane regulator. Due to this, it affects the mucus and sweat glands and creates thicker and stickier mucus which then gets trapped in the lungs and can cause permanent damage. 75% of cystic fibrosis people are diagnosed before the age of 2 and this has massively increased the life expectancy. They had only been projected to live into their 30's, but the average has far exceeded into their 40's and even 50's.

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Huntington's Disease is a deadly genetic disorder that is caused by a very rare dominant allele. An individual who has this disease  may begin to see  that their cognitive thinking has been affected and may have psychiatric symptoms. This occurs due to the progressive breakdown of nerves in the brain. Although this is fatal, some have onset Huntington's Disease which allows them to possibly pass these genes down before they begin to have symptoms or even become aware they have this genetic disorder. This genetic disorder is autosomal dominant meaning only one allele can cause this disease. This is located in the 4th chromosome.

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Individuals who have sickle cell anemia have a condition in which their blood cells become sticky and rigid, preventing the needed amount of oxygen to successfully flow through their bodies. There is chronic pain associated with this condition and fatigue and damage to bones, kidneys, eyes, lungs, heart, and liver are a result of having Sickle Cell Anemia. This disorder is autosomal recessive because in order to obtain this disease, you must inherit 2 genes of this from your parents. The problem is located on the 11th chromosome.

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This is a recessive disorder that occurs due to the lack of an enzyme that's job is to convert amino acids into other substances and breakdown certain material. This gene has been linked to those who have ancestry from Norway, Sweden, and Ireland, but is not life threatening. Symptoms begin to occur during infancy when the child begins to drink milk, full of phenylalanine and they are unable to break this down. This indicates the enzyme is not as present as needed and they then go on a low phenlyalanine diet and take medication to assist this process.