Mutation Essays

  • BRCA Test Debate

    1595 Words  | 7 Pages

    breast cancer and mutations in the human genome. Researchers have discovered two genes in which mutations are associated with a high risk for the development of certain cancers, particularly breast and ovarian cancer. The BRCA1 and BRCA2 genes on chromosome 17 produce tumor suppressor proteins that repair damaged DNA to ensure the stability of the cell’s genetic material. It is important to note that everyone has the BRCA1 and BRCA2 genes. However, there are specific mutations in each gene that

  • Essay On Survival Of The Sickest

    645 Words  | 3 Pages

    The novel Survival of the Sickest by Dr. Sharon Moalem did a great job of exploring and explaining the history of the evolution of modern genetic diseases. The author research and explain the underlying evolutionary mechanisms of past human genetic history and adaptations that support why modern humans still have these heritable genetic diseases. There are many factors that play the role of how an individual or a population inherited a certain genetic disease. Some of these factors are relatively

  • Treacher Collins Research Paper

    273 Words  | 2 Pages

    different than others. Sometimes they are severely affected and sometimes it is hardly noticeable. The syndrome is something that is not passed down through sexual reproduction or asexual. Treacher Collins is a disease that is caused from a genetic mutation in the TCOFI, POLRIC, and POLRID gene. Some symptoms are slanted eyes, vision loss, and hearing loss. The Treacher Collins disease is not treatable but can be made easier for everyday life. Tests like the cleft palate repair, external ear

  • Xeroderma Pigmentosum Research Paper

    1027 Words  | 5 Pages

    Xeroderma Pigmentosum is a genetic disorder that causes hypersensitivity to the skin by exposing to UVB radiation. Skin, eyes, and nerves are the sites where the symptoms appear. In XP, DNA goes under mutation in the genes that repair that DNA. XP can be treated in various ways such as minimizing the exposure to the sun and chemical materials, protection using certain materials and surgical removal of tumors, and genetic counseling for patients and families. Introduction Xeroderma Pigmentosum

  • Early Childhood Thalassemia

    795 Words  | 4 Pages

    common inherited disorder in the world that represents a major public concern. It is characterized by a defect in the genes responsible for production of hemoglobin. Hemoglobin is a protein that consists of alpha and beta chains. If the genetic mutations prevent any formation of beta chains then beta-thalassemia occurs which involves abnormal development of red blood cells and eventually anemia (1, 2). Children born with thalassemia major are normal at birth, but develop severe anemia during the

  • Cowdin Syndrome Research Paper

    1035 Words  | 5 Pages

    breast cancer. 40% breast cancer is caused by Cowdin syndrome. And it is caused by mutation in PTEN gene. Now mutations of this gene are controlled by inserting the IPTEN gene which is discovered in model organism Dicyostelium discoideum. This gene have the ability to suppress the mutations that are found in PTEN gene. Methodology: • DNA extraction • Gene isolation by using restriction enzymes • Induced PTEN mutation in Mice to induce Cowdin syndrome • Insertion of IPTEN gene in

  • Huntington's Disease Research Paper

    1448 Words  | 6 Pages

    they are around 20 to 40 years old. The disease has a possibility of manifesting earlier than 20 years old, which is known as Juvenile Huntington’s Disease. This disease is inherited, the children have a fifty percent chance of contracting the DNA mutation from their parents. After reading through many articles, books, websites trying to understand

  • Intercellular Gene Transfer Lab Report

    1100 Words  | 5 Pages

    Introduction A mutation is a heritable change that is passed from the mother cell to progeny cells. Mutations may lead to good, bad or neutral phenotypic changes in the organism. They may occur spontaneously as in random DNA replicative errors or may be induced by mutagenic chemicals or radiation. Besides mutations, another way that bacteria achieve gene diversity is through the three known mechanisms for intercellular gene transfer. They are transformation, a genetic process which free DNA is incorporated

  • Summary: Two Common Types Of Genetic

    936 Words  | 4 Pages

    Generally there are two common types of mutation in gene that can be classified as gene mutation and chromosomal mutation. Genetic mutation involves the changes in the composition of the DNA molecules or gene itself resulting in the alteration in their chemical structure and composition. The modification in the chemical structure will then lead to the change in the function of the genes. When there is a gene mutation in our body cells, all these altered genes will then be passed down to the children

  • Zellweger Syndrome Research Paper

    1017 Words  | 5 Pages

    toxic substances in the liver, brain, and kidneys. The most common features the zellweger syndrome patients include swell liver, high levels of copper and iron in the blood, and vision disturbances. This disorder results from the inheritance by 2 mutations genes for one of the receptors (PXR1) needed to import proteins into the peroxisome. Then the peroxisome enzymes become unable to enter the peroxisome and long chain fatty acids cannot be metabolized and hydrogen peroxide just stable to affect the

  • The Benefits Of Genetic Testing

    1022 Words  | 5 Pages

    Genetic testing is the process of examining DNA where the DNA is examine for chromosome, genes and proteins changes. Mainly used to detect genetically inherited disease, if the individual is a carrier of a genetically inherited disease or any possible presence of genetically inherited disease, but this method can also be used to determine a child's biological parents, a person's ancestry (usually to make a family tree), finding genetic diseases in the fetus, screening embryos for diseases, and figuring

  • Research Paper On Huntington's Disease

    1050 Words  | 5 Pages

    offspring while others are caused by acquired mutation or changes in an already existing gene. Mutations can take place randomly or due to some environmental factors. There are different modes of genetic disorders that include single gene and multifactorial inheritance, chromosome abnormalities, and mitochondrial inheritance. A genetic disease is caused by an abnormality in an individual’s genetic structure. This idiosyncrancy can range from a mild mutation involving a single gene to a gross abnormality

  • Hutchinson Gilford Progeria Syndrome Case Study

    1783 Words  | 8 Pages

    appearance. It occurs sporadically and according to Hui et al (2011) it has “an incidence of 1 in 8 million live births” and is more often seen in Caucasian males. According to Eriksson et al (2001) this rare condition is caused by a de novo point mutation of the lamin A (LMNA) gene. Symptoms: Signs and symptoms of the disease generally develop within the first year of the individual’s life, but the age of onset can vary, as well as the severity of

  • Lesch Nyhan Syndrome Research Paper

    1630 Words  | 7 Pages

    (1) Epidemiology The lesch-Nyhan disease, it is a rare genetic disorder that can be transmitted at birth. Estimate show that at birth it affect 1/380000 and 1/235000 live births. The lesch Nyhan syndrome is an x-linked recessive disease. The gene mutation or a mutant

  • Usher Syndrome Case Study

    1021 Words  | 5 Pages

    Usher syndrome is a rare heterogenous autosomal recessive genetic disorder with features of visual impairment due to retinitis pigmentosa and hearing loss. Other names for Usher syndrome include Hallgren syndrome, Usher-Hallgren syndrome, retinitis pigmentosa-dysacusis syndrome, and dystrophia retinae dysacusis syndrome [1,2] Usher syndrome represents a genetically diverse condition that involves both early-onset sensorineural hearing loss and retinal pathology. While reports of disease prevalence

  • The Importance Of Genomic Tolerability

    814 Words  | 4 Pages

    instability causes this in hopes of finding the underlying issues with cancer and stop it from being one of the leading causes of death. Genomic instability includes variations in small structures. These variations can include increased frequencies in mutations of base pairs, microsatellite instability, and changes in chromosome number or structure which are referred to as chromosome instability. The origins of these instabilities still remain a mystery but there are many educated hypotheses that try to

  • Cat Eye Syndrome

    995 Words  | 4 Pages

    Introduction Cat eye syndrome (CES) is a chromosome abnormality with an even more abnormal amount of symptoms and mystery. Being a rare disease that only effects 1: 50 000 to 1: 150 000 people, not much is currently known of CES. What will be covered of CES are the effected chromosomes, the cause, symptoms, diagnosis, and treatment of CES. Effected Chromosome Image: CES Normal Male Karyotype (Caption: Normal male karyotype shows chromosome 22 with normal short arm (22q) and long arm (22p))

  • Non Mendelian Genetics Case Study

    1707 Words  | 7 Pages

    human body due to lack of blood clotting factor VIII (Hemophilia A) and IX (Hemophilia B). It is genetically inherited disease or a mutation those two factors. An individual has a two pairing sex chromosome which is the X and Y, to determine whether the individual is a female (XX) or male (XY). The gene

  • Pros And Cons Of Eugenics

    722 Words  | 3 Pages

    Eugenics is the science of using artificial selection to improve genetic features of the population. It is thought that improvement of the human race can be seen through sterilization of people who exhibit undesirable traits and selective breeding. Often called Social Darwinism, the concept was widely accepted during the time of World War I. It quickly became a taboo after World War II when Nazi Germany used it as an excuse for genocide. The thought of improving the human race by manipulating who

  • Essay On Achondroplasia

    1175 Words  | 5 Pages

    per year) yet the most common (occurring at one in every 15,000 to one in 40,000 live births) hereditary form of short-limbed dwarfism. Achondroplasia can be inherited from a parent with the disease, however most cases of ACH are because of new mutations in the FGFR3 gene. (Over 80% of people with ACH have parents who are unaffected). People with achondroplasia have a short stature and normal sized torso. An adult male with achondroplasia averages at about 131 centimeters (4 feet, 4 inches) in height