A Mutation is a change in the DNA structure or sequence of a gene. Mutations are major cause of genetic diversity that can be sometimes detrimental. Mutation of a gene can result in the production of an altered protein that functions poorly or in some cases no longer encodes a functional protein, such mutations can cause genetic diseases. This paper will talk about three examples of diseases involving mutations. Before entering into diseases let’s take a look at what causes mutations and different type of mutations. Sometimes mutations can occur through spontaneous events such as errors during DNA replication. DNA polymerase can insert the wrong nucleotide into a newly synthesized strand of DNA. Polymerase might insert a T where a C belongs. …show more content…
Sickle cell disease was the first genetic disease discovered1. It happens on chromosome 11. Its cause was pinpointed to a particular mutation. Sickle cell disease described a group of inherited red blood cell disorders. People who are diagnosed usually have abnormal hemoglobin in their red blood cells. Hemoglobin is a protein in red cells that carries oxygen across the body. A point mutation in the β-globin gene changes the genetic code. A person that has two defective copies of hemoglobin gene usually suffers from the effects of sickle cell disease. Patients with the disease suffer from poor oxygen delivery to tissue; this results in joint pain and other body pains. Sickle cell disease is inherited which means this disease is passed by genes from parents to child. It is not contagious. There is different forms of sickle cell disease some are hemoglobin SS, hemoglobin SC, hemoglobin SD, hemoglobin SE but hemoglobin SC and hemoglobin Sβ thalassemia are two common forms. Sickle cell disease is most common among people whose ancestors come from Africa, Greece, Turkey, Italy, India and parts of Caribbean2. Sickle cell disease is a life long illness, but with improving technology and science diagnosis- it has made its improvements. As of right now the only cure for sickle cell disease is hematopoietic stem cell transplantation also known as HSCT. However, a compatible donor is required for a good chance …show more content…
It is located on human chromosome 7. Cystic fibrosis is an inherited disease characterized by the buildup of thick, sticky mucus that damages many of the body’s organs. It causes lung infections and problems with pancreatic, digestive and pulmonary functions. Mucus is slippery substance which usually protects the lining of airways, digestive system, reproductive system and other organs and tissues. People who suffer from cystic fibrosis, their body produces mucus that is thicker and stickier than normal people. This abnormal mucus may fill up airways or lungs which can cause trouble with breathing and can also cause bacterial infection in the lungs. This can cause coughing, inflammation, and overtime mucus builds and stays for long time resulting in permanent lung damage, including formation of scar tissue known as fibrosis and cysts in the lungs. People with cystic fibrosis whose cells produce mucus, sweat and digestive juices are affected. Cystic fibrosis patients also have digestive problems. This occurs as a result from buildup from thick and sticky mucus in the pancreas. Pancreas produces insulin which body needs to use sugar, also it makes enzymes which help in digestion of food. People with cystic fibrosis mucus usually blocks ducts of pancreas which results in reduction of insulin and enzymes. If body doesn’t produce enzymes or enough of it, then it can lead to digestion problem such as diarrhea.
- There are many mutations that happen naturally within DNA sequences over time. Most are minor, and have little effect upon an organism. However, some mutations actually provide species with useful adaptations that could help them evolve into more efficient species. Some mutations on a catalytic site completely alter the functioning state of a protein.
Sickle Cell Disease is an illness that affects people all across the globe. This paper will give a description of the sickness through the discussion of the causes, symptoms, and possible cures. Sickle Cell Disease (SCD) is a "group of inherited red blood cell disorders."(1) These disorders can have various afflictions, such as pain, damage and a low blood count--Sickle Cell Anemia.
Mutations are simply changes in the sequence of nucleotides. There are three ways this occurs:
Frame shift mutations are the type of mutation caused by the addition or deletion of a base pair in the DNA resulting in the translation of the genetic code in an unnatural reading frame from the position of the mutation to the end of the gene. In the mutations, we added and deleted beads resulting in an incorrect sentence that does not make sense.
Sickle cell anemia occurs when a person inherits two abnormal genes (one from each parent) that cause their red blood cells to change shape. Instead of being flexible and round, these cells are more rigid and curved in the shape of the farm tool known as a sickle - that's where the disease gets its name. The shape
Sickle Cell Disease is an autosomal recessive genetic disease that occurs due to a mutation in the β-globin gene of hemoglobin. Autosomal meaning that it is not linked to a sex chromosome, so either parent can pass on the gene to their child. This mutation is a result of a single substitution of amino acids, Glutamic for Valine at position 6 of a β globin chain. The presence of this mutation causes
This mutation paper is to give information on the Sickle Cell disease. This is a negative disease to have because the Sickle Cell Disease decreases the health of the person that has the disease and limits what they can and cannot do. Sickle Cell Disease is a red blood cell disease that causes ab normal hemoglobin to from in the veins. Hemoglobin is the protein that carries oxygen throughout the body to help with the respiratory system. The cause of the genetic mutation is inheritance or getting the disease from the parents the disease is found on chromosome 13 while the hemoglobin is still in beta phase on gene HB A. The disease typically shows symptoms within the first 5 to 6 months of birth and being diagnosed with Sickle Cell Disease. The symptoms include painful swelling on the hands and feet, and Jaundice, which causes a white color to form under the eyes, and turns the skin color yellow.
These mutations can be due to an error in DNA replication or due to environmental factors, such as cigarette smoke and
Some mutations are harmful, however the mutations which are
Approximately 100,000 people suffer from Sickle Cell Anemia everyday and about 2 million people have the Sickle Cell trait in the United States alone. Sickle cell disease is the most common inherited blood disorder in the United States, affecting 70,000 to 80,000 Americans (Pruthi 2018). The disease is estimated to occur in 1 in 500 African Americans and 1 in 1,000 to 1,400 Hispanic Americans (Pruthi 2018). Sickle cell anemia is an inherited form of anemia, a condition in which there aren't enough healthy red blood cells to carry adequate oxygen throughout your body normally, your red blood cells are flexible and round, moving easily through your blood vessels. In sickle cell anemia, the red blood cells become
In this essay I will be talking about sickle cell anemia. Well I was diagnosed with the disease at birth. I have what they call SS, which means I have the full illness. The reason I do is because both of my parents have a trait. This is my story.
Sickle Cell disease (SCD) is an inherited blood disorder in which abnormal hemoglobin is produced in red blood cells. The body creates sickle red blood cells, which are crescent shaped instead of the typical round shape. This shape of the sickle cells are stiff, as well as stick and because of this they tend to block blood flow in the blood vessels of the limbs and organs. This blockage will cause pain and organ damage, as well as serious infection. (National Heart, Lung, and Blood Institute [NHLBI], 2014.). Sickle Cell Disease is also known as sickle cell anemia and Hemoglobin SS Disease.
These mutations can be due to an error in DNA replication or due to environmental factors, such as cigarette smoke and exposure to radiation, which cause changes in the DNA sequence. These changes can affect
This disease is a genetic disease and it is hereditary. It is inherited as an autosomal recessive disease. This means that in order to get the gene you must receive a recessive trait from your mother and your father. The parents could both be heterozygous for the trait and therefore not have the disease, but instead they would both be a carrier. There are only a few ways that the parents could possibly pass the trait. One possibility of having a child with sickle-cell disease is if both parents are heterozygous and they both pass on their recessive allele, (25% chance for offspring to have sickle-cell disease). Another possibility
There are many types of genetic conditions. Genetic mutations cause these genetic conditions. Genetic mutations can occur if there is an extra chromosome in a gene, if there is a missing chromosome, or even if there is a distorted chromosome. Some genetic conditions include autism, food allergies, and Down syndrome.