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Which genetic disorder
Which genetic disorder
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Genetic disorders are diseases caused when certain mutations occur in DNA. There are a wide range of genetic disorders that are each caused by different genes and each have very different symptoms. There are three kinds of genetic disorders: single-gene disorders, chromosome abnormalities, and multifactorial disorders. In this document we will cover the three types of genetic disorders, examples of each type, and possible treatment of particular disorders such as Huntington’s disease, Down syndrome, and Alzheimer’s disease.
Life on Earth relies on the mutation of DNA. Mutations allow organisms to evolve, making them healthier and more capable of surviving. While many mutations occur that help species to survive, there are also just as many mutations that do not help species survive. In some cases, organisms die because the mutation of their DNA makes it impossible for them to survive. For some species, mutations occur that do not help them to survive, but they still live. This could be the beginning of an inherited genetic disorder.
Genetic disorders are abnormalities of the human body, caused by mutations in DNA. These mutations are random unless caused by the environment. There are three categories of genetic disorders: single-gene disorders, chromosome abnormalities, and multifactorial disorders.
As said by Richard Twyman, “Single-gene disorders are caused by defects in one particular gene, and often have simple and predictable inheritance patterns (http://genome.wellcome.ac.uk/, 2003).” Single-gene disorders usually cause symptoms by altering or changing the amount of a protein made by the mutated gene. Offspring of a parent with the mutated gene have a fifty percent chance of inheriting the mutated gene.
Huntington’s ...
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...milies. With the support of scientists, the government, the affected families, associations, and communities, we can improve affected individuals’ quality of life. We can not only help our current population, but help our future populations. With science we can change our world.
Works Cited
“Research.” Alzheimer’s Association. www.alz.org. 2006.
Reilly, Phillip R. The Strongest Boy in the World: How Genetic Information Is
Reshaping Our Lives. Cold Spring Harbor: Cold Spring Harbor Laboratory. 2006.
Shari Roan. Gene Therapy may reverse Down syndrome. Los Angeles Times. 2004.
“Single Gene Disorders.” The Human Genome. http://genome.wellcome.ac.uk/. 2003.
Wellcome Trust.
Tingey, Carol. Down Syndrome. Boston: College-Hill. 1988.
“Understanding Genetic Disorders.” http://learn.genetics.utah.edu/. Genetic Science
Learning Center. University of Utah. 2006.
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Genetic disorders can be caused by many of the 46 chromosomes in human cells. This specific disorder is linked to a mutation in the long arm of the X, or 23rd chromosome. The mutation is recessive, meaning a normal X chromosome can hide it. Females have two X chromosomes allowing them to hide the mutated recessive one, making them a carrier of the gene, while males only have one X chromosome, meaning that they are unable to hide the mutation and they become effected by the disease. Therefore if a male carries the gene, he is affected because he has no way of dominating the recessive gene, but if a female carries it, she is only a carrier and has a 50/50 chance of passing it on to her baby. This may seem like a high probability however, only one in every fifty thousand male births will have this immunodeficiency disease.
A genetic disorder is a sickness caused by one or many abnormalities or absentees in the genes or chromosomes. One interesting genetic disorder such as cancer, are found genetic but, can also be caused and affected by many by environmental factors such as being exposed to asbestos which may increase the risk of lung cancer and many other cancers. While on the other hand most disorders like Williams Syndrome are genetic and are primarily rare and only affect a limited amount of people about one in every several thousand. Because it is a genetic disorder that is estimated between 1 in 10,000 people worldwide, primarily caused by a micro-deletion on the seventh chromosome is what indicates the disorder being Williams Syndrome.
Huntington's disease is a progressive brain disorder that is caused by a single defective gene on chromosome 4 — which is one of the 23 human chromosomes that carry a person’s entire genetic code (alz.org, 2013). This defect is dominant, w...
This can result in single gene disorders that may or may not be life threatening depending on the mutation. For example, the Maple Syrup Urine Disorder, or MSUD, is a potentially fatal disease that disables the body from breaking down valine, leucine and isoleucine. These three amino acids are used to build proteins and are eventually broken down by branched –chain alpha ketoacid dehydrogenase (BCKD). Individuals who are affected by MSUD have a mutation that lack one of the six proteins that assist in the breakdown of the three amino acids. As a result, increased levels of valine, leucine and isoleucine end up in the blood stream and cause degradation of brain cells. In order for the disease to be inherited the child must obtain an altered gene from each parent, which makes MSUD an autosomal recessive
It is important to note that genes themselves do not cause disease genetic disorders are caused by mutations that make a gene function improperly. For example, when people say that someone has the cystic fibrosis gene, they are usually referring to a mutated version of the Cystic Fibrosis Transmembrane Conductance Regulator gene, which causes the disease. All people, including those without cystic fibrosis, have a version of the Cystic Fibrosis Transmembrane Conductance Regulator gene.
Purpose – I want to bring awareness to the fact that Alzheimer’s disease is an irreversible, progressive brain disorder that slowly destroys memory and thinking skills, and eventually the ability to carry out the simplest tasks.
Genetic diseases are diseases passed down through heredity and genes. Tourette Syndrome is one of the more common genetic diseases. Although it is made fun of in television and movies, Tourette Syndrome is a very serious disorder.
...hed and streamlined to allow for earlier diagnosis. In the case of tertiary prevention, the pharmaceutical companies have a huge financial incentive to create a cure for Alzheimer’s but that is not enough. More government funded research should be dedicated towards finding methods to delay or cure Alzheimer’s disease. The baby boomer generation has already entered their 60’s. As people live longer, as a result of new treatments for common killers such as heart disease and cancer, the chances that they will succumb to Alzheimer’s increases. Failing to find preventative or curative measures will be costly. On a personal level, Alzheimer’s disease slowly attacks cognitive function-the higher thought processes; individuals degenerate into infantile dependents. The cost of caring for increasing numbers of such dependents will be a burden on both family and society.
Huntington’s disease is named after George Huntington. This disease genetically is an inherited disorder that damages the mind and nervous system. This may affect actions of the body for example like movement, the ability to reason, awareness, and thinking and judgment. It can also affect their behavior. The word genetic is that the disorder is delivered on by each generation of offspring by special codes called genes(Patient.Co.Uk, 2011). Genes are relocated from a parent to offspring and is held to decide some characteristics of the children (Patient.Co.Uk, 2011).
In this day and age, it seems as though almost everyone has experience a loved one taken away form a very serious disease known as Alzheimer’s disease. Alzheimer’s disease is unbelievably devastating for everyone affected by it. This disease is causing major economical problems such as less occupancy in the nursing homes, and hospitals due to the rising population of elderly men and women being diagnosed with it everyday. Because there is not yet a cure for this disease and the percent of the population being diagnosed keeps rapidly rising, more time and money needs to go towards Alzheimer’s research.
... If it is a beneficial mutation, then it will likely not only pass on through reproduction, but those offspring will have better odds of reproducing in order to “spread” that trait onto future offspring. This is the process of natural selection. If there are enough changes, or the change is drastic enough, a new species can evolve. So, evolution comes about as a result of changes to DNA, and some of those changes to DNA can come from external factors such as environment, climate, and culture.
Mutation happens when the DNA gene gets changed, moves, or is damaged. When this happens it causes the genetic message to be carried by that gene to be different. This process can occur in somatic cells. The somatic cells are all the cells that are a living organism except the reproductive cells, meaning the body. For example, the skin cells on your legs are and will not be passed on to ones offsprings. In addition those leg cells will not effect the evolution. Another occurrence is called gametic mutations, which is in a woman's eggs and or in a man's sperm. These are cells that are and can be passed on to ones offsprings, and they are the essentials for the evolution. There are three effects mutation causes to a species. Species can only takes on one of the three. The three effects are bad, neutral, and good. Having a bad mutation can cause one to have a harder time being able to survive. Having a neutral mutation will not change or help one to survive. Having a good mutation will help one to survive and have a better chance of survival. However, mutation is random in the evolution, and provides raw material for natural selection, genetic drift, and gene flow...
Genes are made of DNA – the code of life (Gene Therapy- The Great Debate!). The changes in genes may cause serious problems, which we called genetic disorder. In theory, the only method to cure genetic disorders is gene therapy, which basically means the replacement of genes in order to correct the loss or change in people’s DNA. Although gene therapy gives patients with genetic disorders a permanent cure, it is controversial because it has safety and efficacy problems, and raises ethical issues.
A genetic mutation is a permanent change in the sequence of the DNA that makes up a gene. A mutation of these sorts can be caused by either inheritance from the parent or caused sometime during the life of someone. The mutation that has been inherited is called a germline mutation. Germline mutations affect virtually the entire body, and they seem to be present in every cell. A somatic mutation, or one that is caused in the DNA of a single cell sometime during the life, can be caused by an environmental factor or a wrong bonding in the DNA molecule. These cannot be passed down to the next generation of children because they occur in a specific cell as opposed to in a reproductive cell. Some mutations occur in the embryo as it is growing. These may occur during cell division, and some of the cells may or may not inherit this mutation. Some mutations are extremely rare, and others are incredibly common. Those that occur in more than one percent across a population are considered polymorphisms. Polymorphisms are considered normal variations in DNA, and they are known to cause simple changes such as variations in blood types and hair color. Although these are not typically fatal, they can influence the creation of some disorders (Lister Hill National Center for Biomedical Communications, U.S. National Library of Medicine, National Institutes of Health, Department of Health and Human Services, USA.gov, 2013).
Another mechanism is a hereditable type of evolution is mutations. Mutations are alterations to a gene. Mutation can be harmful, beneficial or neutral. Mutations are the origin of the source of genetic diversity (9).Mutation that are harmful, hinders the chances of the organism chances of survival and are likely to die along with the mutations. Beneficial mutations increase the chances of the individual to survive in its environment, and they will be more likely to reproduce and pass on the gene to future generations (9).