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Genetic Diseases and Recessive Genes

written by: Vasanth•edited by: lrohner•updated: 12/18/2010

There are several genetic diseases inherited by recessive genes. Cystic fibrosis, sickle cell anemia, tay sachs, and spinal muscle atrophy are autosomal recessive genetic diseases. Becker muscular dystrophy and hemophilia are x-linked recessive genetic diseases.

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    Cystic Fibrosis

    Cystic fibrosis is a genetic disease that affects the mucous secreting glands of the body. The glands produce an excess amount of mucous that is thicker and sticker than normal. This affects several organs in the body including the intestines, lungs, and liver. A person diagnosed with cystic fibrosis can expect to live about 37 years.

    There are over 500 different mutations that result in cystic fibrosis. Delta F508 and R117H are two genes that can cause cystic fibrosis if either one is mutated.

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    Sickle Cell Anemia

    Sickle cell anemia is a genetic disease that causes the red blood cells to develop as a crescent shape. This can lead to blood clots when the red blood cells clump together. The disease also causes anemia, fatigue, and shortness of breath. If the gene for sickle cell anemia is inherited from both parents, the disease is very severe. If the gene is only inherited from one parent, there aren't any symptoms.

    Sickle cell anemia results from the mutation of the beta-globin gene, HBB. It produces hemoglobin S.

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    Spinal Muscle Atrophy Type 1

    Spinal muscle atrophy type 1 is another one of the genetic diseases inherited by recessive genes. It is caused by a mutation in the survival motor neuron gene, SMN1. This autosomal recessive disease causes muscle weakness that leads to reduced body movements and deformed limbs. Individuals with this disorder have difficulty swallowing and breathing. The symptoms are present at birth or become noticeable by age 2. This genetic disease is also known as Werdnig-Hoffmann disease or infantile spinal muscle atrophy.

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    Tay Sachs Disease

    Tay Sachs is a recessive genetic disease caused by a mutation in the hexosaminidase A gene, HEXA. A mutation in the gene causes fat molecules to accumulate in the brain. Some of the symptoms associated with this genetic disease include the inability to retain learned skills, diminished smiling, blindness, deafness, and the inability to swallow. The disease is usually fatal.

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    Becker Muscular Dystrophy

    Becker muscular dystrophy is an x-linked recessive genetic disease. The dystrophin gene, which is responsible for the disease when it is mutated, is carried by females, but only affects males. The disease is characterized by a slow deterioration of muscle tissue. The disease usually becomes apparent during the teenage years or early adulthood. All voluntary muscles are affected, but the disease usually weakens the muscles of the limbs first.

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    Hemophilia is another one of the genetic diseases inherited by recessive genes. This is an x-linked genetic disease, so only males can contract the disease. Females are carriers of the gene and don't develop the disease. There are two types of hemophilia. Hemophilia A is characterized by a factor VIII deficiency, and hemophilia B is characterized by a factor IX deficiency. The lack of clotting factors prevents the blood from clotting normally. As a result, individuals with this disease are easily bruised and bleed excessively when wounded.

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