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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.
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Reshaping Our Lives. Cold Spring Harbor: Cold Spring Harbor Laboratory. 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.
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
A genetic disease is a mutation caused by the absence of a gene or by products of a defective gene. ("Genetic Disease") ("What Are Genetic Disorders?")
A disease that results from a change to an individual's DNA is classified as a genetic disorder. The change can be very small such as a single mutation in a particular gene or complex like the addition or removal of a complete chromosome. An instance of a genetic disorder that affects a particular gene is Marfan syndrome. Marfan syndrome is an inherited disorder which alters the connective tissue in the body (Frey R, Sims J, 2010). Individuals with this disorder are affected in multiple areas because connective tissue is present all through the body. It is common for affected individuals to show irregularities in their eyes, circulatory system, skin, lungs, and musculoskeletal system (Frey R, Lutwick L, 2009).
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.
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.
Mutations are a result of changes in the DNA sequences. These changes can happen as a point mutation, which is a change in one base pair of codons, or the can happen to an entire sequence of pairs or the breaking of pairs. Point mutations are substitution, insertion, and deletion. Another type of mutation is translocation, and this can occur in a chromosome or between different chromosomes. With a substitution mutation it can be one of 3 types. These types are nonsense, misssence, or silent. Some mutations are caused by exposure to radiation and due to certain medications and chemicals. If these mutations are within reproductive cells, they will be passed down to the next generation. They can inherit is as a recessive trait, a dominate trait, or get the recessive trait from both parents. If the mutation is dominate, the offspring will have the disease. This is also true if they inherit it from both parents. If it is only inherited as a recessive trait from one parent, then they will be a carrier and will pass it to their offspring. This mutation will pass through generations the same as a gene for eye color or height. The same is true for a helpful mutation, like the mutation for resistance to diseases, for stronger bones, or better color vision.
3.) Judd, Sandra J.. Genetic disorders sourcebook: basic consumer health information about heritable disorders, including disorders resulting from abnormalities in specific genes .... 4th ed. Detroit, MI: Omnigraphics, 2010. Print.
Bellenir, Karen. Genetic Disorder Sourcebook: Basic Information about Heritable Diseases and Disorders Such As Down syndrome, PKU, Hemophilia, and Von Willebrand Disease. Detroit: Omnigraphics, 1996.
Muscular Dystrophy is type of genetic disorder consisting of 30 characterized genetic diseases. Essentially, Muscular Dystrophy reduces the strength of the muscles in your body until eventually they degenerate and lose all function. Each type of this rare disease varies in its affects, symptoms, and severities. However they are all commonly caused by dissimilar genes accompanied by imperfections.
This disorder is recessive, meaning a person would need two recessive alleles with the mutation from both parents to obtain the disease. People with just one allele are able to be healthy carriers of the disease.
In addition to understanding diagnostic criteria and prevalence rates, mental health practitioners should also be aware of the etiological components of MDD. Pearson, Palmer, Brick, Mcgeary, Knopik and Beevers (2016) stated that MDD is phenotypically diverse and genetically complex. Therefore, it is important to consider multiple etiological factors, i.e., biologic, genetic, and psychosocial.
Genetic conditions are occurences in which a DNA abnormality is expressed. Some conditions pose a threat to the organism it inhabits, whereas some are neither beneficial nor harmful. 350 million people globally have some type of genetic conditiom, and they're sure to spark interest.
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).