...Songer AP Biology February 16 2015 Sickle Cell Anemia: Case Study Summary Sickle Cell Anemia is a painful diseases that is caused by a mutation in the protein called hemoglobin which helps carry oxygen in red blood cells. Because of the mutation, the hemoglobin is shaped oddly which results in pain because it is hard for the blood to travel throughout the body and anemia because of the lack of oxygen in the blood. A person can only have this disease if both parents are carriers and they receive two recessive alleles. There are five effects of the disease at different levels. At the DNA level the mutation causes the sequence to be coded GTG, CAC instead of GAG, CTC which results in a mutant protein. At the protein level the hemoglobin clump together which makes it hard for it to travel through arteries and vessels. At the cellular level the blood cell because “sickle shaped” due to the lack of oxygen that constricts blood flow. In an organism sickle cell anemia causes pain and fatigue during exercise. The only positive effect is the resistance to malaria. These examples show how a small mutation has a very large (sometimes fatal) effect. Therefor large and small mutations can have big effects (“A case study of the effects of mutation: Sickle cell anemia,” 2015) 1. Sickle Cell Anemia is an autosomal recessive disease. These means that both parents of the offspring have to have one normal gene and one mutated gene. The mutated gene is caused by substitution in an amino acid...
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...Sickle cell anemia(SCD) is an inherited genetic disorder which causes the expression of defective hemoglobin on chromosome 11 resulting irregularly shaped red blood cells also known as “sickle cells” because they look like a sickle or are in a crescent shape. The normal red blood cells are round, smooth and deliver oxygen to cells throughout the body but a cluster of sickle shaped cells blocks the blood flow, causing painful attacks and sometimes stroke. Due to their different shape and chemistry, they are controlled by many free radical processes. This paper will talk about the frequency this disease, inheritance pattern, genetic changes, current research and/or efforts to develop vaccine, symptoms, diagnosis and treatment of sickle cell anemia....
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... Sickle Cell Anemia Assignment #2 BIOL 1010 James Cheetham May 29 2014 Sickle Cell Anemia, Also known as Hemoglobin S Disease (HbS Disease), spreads along the lines of anemic or iron deficient blood types . Hemoglobin is the red protein that is responsible for transporting Oxygen in vertebrates. It is composed of 4 protein subunits, two called Alpha – globin and two called Beta-globin. The HBB gene, located on the 11th Chromosome (11p15.4 specifically and its locus MIM number is141900), provides “Instructions “ for making the beta globin but unfortunately nothing in life is perfect and mutations are bound to occur. Various versions of Beta Globin result from different kinds of mutations in the HBB gene. Some mutations in the HBB gene lead to abnormal versions of beta globin such as hemoglobin C (HbC) and hemoglobin E (HbE). HBB gene mutations can also result in unusually low levels of beta-globin; this abnormality is called beta thalassemia .One particular mutation produces the abnormal HbS Beta globin. People with sickle cell disease, at least one of the beta globin subunits in hemoglobin are replaced with hemoglobin S. For example, people with sickle hemoglobin C (HbSC) disease have hemoglobin molecules with hemoglobin S and hemoglobin C instead of beta globin If mutations that produce Hemoglobin S and beta thalassemia occur together, individuals have hemoglobin S-beta thalassemia (HbSBetaThal). In people with Sickle Cell Anemia...
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...Sickle-Cell disease is one of the most dangerous disease in the world.It can be inherited by the disorder of the blood and sickle-cell is an abnormal hemoglobin.So the effects can be included to you can get swelling in your body. The causes of sickle-cell anemia is a recessive trait.That means that means sickle-cell came form the blood of your parents and sickle-cell have more to do with you parents passing it on to you.Therefor sickle-cell is an abnormal hemoglobin.People who have sickle cell trait usually have few, if any, symptoms and lead normal lives. However, some people may have medical complications.When both parents have a normal gene and an abnormal gene, each child has a 25% chance of inheriting two normal genes a 50% chance of inheriting one normal gene and one abnormal gene and a 25% chance of inheriting two abnormal genes. The effects of sickle-cell is that you can get a fever , swelling of the feet, hands ,pain in the chest abdomen joints ,nose bleeds and frequent appearances. Approximately one in twenty children with sickle cell disease suffers a strokes, most often between the ages of 3 and 12 years. If a child looks particularly pale, shows a low and decreased tolerance for physical activity, and seems run down this may be a sign that their anemia has become worse. Sickle-cell can be treated by medication used to treat sickle cell anemia included with different vitamins and you need a lot of vitamin A,B,C. You will need to have more than a lot of...
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...Elizabeth Gossan Inherited genetic diseases - discuss Lynne Hampson 1,684 30/08/2014 Inherited Genetic Diseases – discuss. DNA is a large and complex molecule made up of a sugar phosphate backbone which consists of deoxyribose sugar bonded with phosphate groups. Then branching off the sugar phosphate backbone are complimentary nitrogenous base pairs which are Adenine, Thymine, Guanine and Cytosine. Transcription happens in the nucleus, where the double helix ‘unzips’ allowing mRNA to match up with the uncovered bases forming a mRNA chain which then leaves the nucleus through nuclear pores into the cytoplasm. Once in the cytoplasm, the mRNA strand finds a ribosome where translation takes place. As the mRNA molecule is passed through the ribosome it is translated and the corresponding tRNA molecules (triple codons) match up to the base pairs. Each triple codon has an amino acid attached; the amino acids form bonds which then in turn creates the desired protein. A mutation can be caused by deletion of bases in DNA, insertion of bases, substitution when the DNA is first ‘unzipped’ – this results in the wrong mRNA codon being translated - mutations can also be chromosomal (An example of this would be Down’s syndrome). Because one of the bases in the mRNA strand has altered due to deletion or insertion etc, it no longer matches the triple codon (tRNA is the small transfer RNA that brings the amino acid to the protein that’s being formed), this alters the amino acid formed...
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...Sickle cell anemia is the most prevalent genetic disorder in the United States, which falls under the broad term of sickle cell disease. This term is frequently used to describe a group of chronic hemolytic anemias (Falvo and Holland, 2014; National Human Genome Research Institute, 2016). Chronic hemolytic anemias, or SCA is an inherited disorder characterized by abnormal hemoglobin caused by a recessive allele that changes its structure (Falvo and Holland, 2014). An individual can inherit two sickle cell genes (one from each parent) or a sickle cell gene in combination with another abnormal gene that causes this change within their red blood cells. A normal hemoglobin molecule is biconcave shaped which allows red blood cells to flow easily...
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...INTRODUCTION The Secrets Behind Gene Knockout Technology Presently, knockout gene technology or gene knockout technology (abbreviation: KO) allows experimenters to inactivate specific genes within an organism and determine the effect of this on the functioning of the organism. Also, they are used in learning about a gene that has been sequenced, but which has unknown or incompletely known function. Genes can be knocked out in microorganisms as well as organisms of greater complexity, such as mosquitoes, flies, and worms. However, the mouse is perhaps the most important species in which researchers can now use in this technology because of two reasons: (1) the mouse is the most genetically manipulated mammal in the world and (2) it shares much of its genetic material with humans (and other mammals) which means that experimental findings in mice will often be directly relevant to conditions in humans. The paper focuses on the controversies and challenges in Gene Knockout Technology – an article/blog entitled “Sickle Cell Disease cured by Gene Knock-out”. Switching off a single gene can help treat sickle cell disease or sickle cell anemia (a chronic, usually fatal anemia marked by sickle-shaped red blood cells, occurring almost exclusively in Black people of Africa or of African descent, and characterized by episodic pain in the joints, fever, leg ulcers, and jaundice. The disease occurs in individuals who are homozygous for a mutant hemoglobin gene) by keeping the blood forever...
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...Microevolutionary Process Notes * 1) Natural selection works on individuals * 2) Individuals do not evolve, populations do * Insecticide application didn’t result in insecticide resistance: some insects carry trait of resistance in their genes * Processes in Microevolution -Mutation -Non-random mating -Genetic Drift -Natural Selection -Gene Flow * Hardy-Weinburg Theorem: Frequencies of alleles and genotypes are preserved from generation to generation in populations that are not evolving -p2 + 2pq + q2 = 1 * Hardy-Weinburg tells us that we will never get rid of bad genes and it’s used to figure how gene populations change over time * The Hardy-Weinberg theorem describes a pop’n that is not evolving. It has 5 assumptions: 1. Genetic Drift: This represents random changes in small gene pools due to sampling errors in propagation of alleles. The bottleneck effect and founder effect are prime examples of genetic drift. In either case the number of individuals in a population is drastically reduced distorting the original allelic frequencies. (H-W assumes large population) 2. Gene Flow: The movement of alleles into and out of a gene pool. Migration of an organism into different areas can cause the allelic frequencies of that population to increase. Most populations are not isolated, which is contrary to the Hardy-Weinberg Theorem. (H-W assumes the population isolated from others) 3. Mutations: These changes in the genome of an organism are...
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...Sickle-cell disease From Wikipedia, the free encyclopedia This article is about the disease itself. For the genetic transmission of sickle-cell disease and its carrier state, see sickle cell trait. Not to be confused with Sick cell syndrome. Sickle-cell disease Classification and external resources Figure (A) shows normal red blood cells flowing freely through veins. The inset shows a cross section of a normal red blood cell with normal haemoglobin. Figure B shows abnormal, sickled red blood cells log jamming, sticking and accumulating at the branching point in a vein. The inset image shows a cross-section of a sickle cell with long polymerized HbS strands stretching and distorting the cell shape. ICD-10 D57 ICD-9 282.6 OMIM 603903 DiseasesDB 12069 MedlinePlus 000527 eMedicine med/2126 oph/490ped/2096 emerg/26emerg/406 MeSH C15.378.071.141.150.150 GeneReviews • Sickle-cell disease Sickle-cell disease (SCD), or sickle-cell anaemia (SCA) or drepanocytosis, is a hereditary blood disorder, characterized by red blood cells that assume an abnormal, rigid, sickle shape. Sickling decreases the cells' flexibility and results in a risk of various complications. The sickling occurs because of a mutation in the haemoglobin gene. Individuals with one copy of the defunct gene display both normal and abnormal haemoglobin. This is an example of codominance. Life expectancy is shortened. In 1994, in the US, the average life expectancy of persons with...
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...mutations always lead to diseases? Mutation can either lead to diseases or be beneficial to an organism. The ability of DNA to mutate enables life to overcome changes in the environment. Mutation are a natural occurrence in all organism. It could occur spontaneously through errors during DNA replication. It could also occur when the organism is exposed to mutagens such as chemicals or radiation resulting in insertion, deletion or replacing DNA base. Not all mutations will affect the phenotype of the organism and cause disease. Some mutations have no noticeable effect because it occurs in a part of the protein that is not important to its function. Some mutations have been proven to have a positive effect on the human body, this leads to a new version of protein that can help an individual adapt better to the change in environment. To answer the question : Do mutations always cause diseases in human and does haemoglobin mutation have beneficial traits? Sickle cell disease will be used as a case study to answer the question. . A summary of this refinement and the specific research question is Does haemoglobin mutation confer greater beneficial traits to an organism. Background...
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...Report on Sickle Cell Disease Name: Professor: Course: Date: Sickle Cell Disease Sickle cell disease is a life threatening illness passed down from parents to children through the genes (Piel & Weatherall, 2015). The disease therefore, is present at birth but the signs come to the fore after the fourth month. The disease has been recognized as a major public health concern by international agencies and is common among many people in Africa, the Arabian Gulf, Turkey, India; the Mediterranean and their descendants spread around the world. For instance, in United States one in 400 African-American infants is born with sickle cell disease annually (Ibid). Description of Sickle Cell Disease Sickle cell disease comprises of red blood cell disorders whose main feature is abnormal hemoglobin in the red blood cells. Hemoglobin is an oxygen carrying protein in the red blood cells (Peterson, 2008). The abnormality of the hemoglobin is caused by a mutation in a gene of the hemoglobin protein. This abnormality hinders the proper formation globin genes of the hemoglobin molecules resulting in abnormal hemoglobin that may take the forms of “S” hemoglobin or “SC” hemoglobin or “beta-thalassemia” hemoglobin as noted by (Rees, Williams & Gladwin, 2010). Types of Sickle Cell Disease The disorders; sickle cell anemia disease (caused by “S” hemoglobin), “SC” disease (caused...
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...Eastern Shore Sickle Cell Anemia Dayona Williams Developmental Psychology 0301 Evelyn Jones 25 November 2014 Abstract: The paper you are about to read will inform you about the disease Sickle cell Anemia. It will explain to you about what Sickle cell Anemia is and how you develop it. This paper will also tell you the symptoms and who can get it. While reading the information you will understand all about the disease and how it’s treated and can it be cured. Also in the paper it will inform you about the difference in Sickle cell Anemia and Sickle cell Trait. Lastly, In the paper you are about to learn all you need to know if someone in your family has Sickle cell Anemia and what they go through and how to actually understand it. In today’s society many kids and adults face the disease called Sickle-cell Anemia. This disease is well known throughout many states and countries. Sickle-cell Anemia is when red blood cells are not shaped as normal blood cells. They are shape in a crescent moon like shape which creates different blockages from the normal cells to pass through. The reason why is because the actual sickle cells become sticky to the point where they stick on the blood vessels wall. Many people know that red blood cells carry nutrients and oxygen from the lungs throughout the body. With the blood vessels flow being blocked and the blood cells shape being crescent there is not enough oxygen being pushed through the body. The red blood cell also carries, “iron...
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...(s) of other people has been attributed, and has been cited and referenced. 3. This report is my own. 4. I have not allowed, and will not allow anyone to copy my work with the intention of passing it off as his/her own work. Signature date Question: Discuss what are the nucleotides and nucleic acids in human health and disease Almost all living cells contain two very important substances, deoxyribonucleic acid or DNA and ribonucleic acid or RNA. These molecules carry instructions for making proteins. The help specify the amino acid sequence and thus which proteins will be made. When nucleotides join together they form the functional units of the structure of DNA and RNA where DNA contains one less hydroxyl group than RNA. Nucleotides serve as a source of energy therefore playing an important role in metabolism, for example mitochondria produce ATP or Adenosine triphosphate. They also serve as co-factors in enzymatic reactions and participate in cell signalling for example as Camp messengers. A single nucleotide is made up of three smaller molecules, a phosphate group which helps to form the sugar phosphate backbone via phosphodiester bonds which is between the three carbon sugar of one atom and the four carbon sugar of another, a pentose sugar, deoxyribose or ribose, and a nitrogenous base thymine, adenine, guanine and cytosine or uracil in RNA. These bases can be purines...
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...Sickle Cell Anemia My Sickle Cell Anemia Story My name is Haley Arsenault, I am fifteen years old and living with sickle cell anemia. That sentence sounds so sad, so depressing, as if that is the only way to define my existence. As if my disease defines my entire life when I have been doing everything I can to be a normal teenager, a normal high school student. It’s hard sometimes to distance myself from the disease because I am constantly reminded of it and how it affects my life. My parents, my doctors, my therapist, and my teachers are always concerned about me and it can be overwhelming. My therapist, Kate, is having me write down my “sickle cell anemia story” in my journal as a way to cope….well here goes nothing Kate! I think the best way to start would be the cause of my sickle cell anemia. The disease is strictly an inherited disease, meaning you can only get it from inheriting two genes for sickle hemoglobin, one from each of your parents. It is a lifelong disease with currently no known cure. Neither of my parents have sickle cell anemia but they are both carry the sickle cell trait. This means that they can pass the gene on to me but fortunately they show no symptoms of anemia and live normal lives (well, I wouldn’t say they are exactly “normal” but you know what I mean….). I had a 25 percent chance of being born with two abnormal genes, which happened, and the abnormal genes cause me to have the disorder. My parents and I are African-American which is significant...
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...SICKLE CELL ANAEMIA Name: Institution: Introduction The sickle cell anaemia is a relentless hereditary kind of anemia in which a transmuted form of hemoglobin disfigures the red blood cells into a hemispherical outline at low oxygen levels (Sickle cell anaemia, 2015). The disorderedly affects individuals of the Caribbean, African as well as Asian origin, in the United Kingdom sickle cell disorders is mostly usually experienced in the Caribbean along with African persons. Consequently, this paper is going to talk about sickle cell anaemia along with alternate issues related to it. What causes sickle cell anaemia? Sickle cell anaemia is brought about by an alteration as well as uncharacteristic alteration in the gene that initiates the body to create hemoglobin. The sickle cell DNA is mostly inherited whereby it is conveyed from one generation to another in the family. To acquire sickle cell anaemia one must inherit the flawed DNA from mutually all the parents. Should one get the DNA from only one parent then this condition can be described as a sickle cell condition? There is a high chance that the person’s blood will have some sickle cell, and will also be able to generate the ordinary hemoglobin but not experience the signs of the disease. Conversely, the individual will be perceived as the carrier of sickle cell anaemia...
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