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various genetic disorders
various genetic disorders
various genetic disorders
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In 1970 Francis Crick published a paper in the science journal Nature on the central dogma of molecular biology, presenting the normal flow of genetic information, as shown in Figure 1 (Crick, 1970). Although many discoveries have been made since then, the main idea still stands: every organism uses its own DNA sequence to synthesize its proteins (Crick, 1970). In order to function properly, the genome has to be kept unblemished, any damage can potentially affect a protein’s structure, interfering with its function (Brown, 2010). Albeit evolution has equipped every functional cell with a molecular toolkit designed to repair and thus prevent DNA damage, errors still occur. Those errors that remain buried within a cell’s genome and are sometimes passed on to the next generation, go under the name of DNA mutation. Because DNA codes for proteins and RNA molecules, almost every change in the DNA sequence, left unrepaired, can cause physiological malfunctions, known as genetic diseases.
According to The Global Genes Project, there are more than 7,000 rare genetic diseases alone. Despite those alarming figures, genetic diseases are not uncommon since DNA is rather a fragile molecule prone to damage. Many types of mutations have been analyzed and classified, the simplest of which is point mutation. The change of one base pair into another has been linked to life-threatening diseases such as sickle cell anemia. In sickle cell anemia, the structure of the β-strand of the hemoglobin protein has been modified by the replacement of glutamine acid (Ingram, 1957).At the molecular level, the change from glutamic to valine corresponds to a modification of adenine to thymine (Marotta et al., 1977), leaving the peptide chain with a loss of negative...
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...e mitochondria and possible contribution to mutagenesis through reduced replication fidelity. Proceedings of the National Academy of Sciences 102, 4990-4995
22. Taylor, R. W., & Turnbull, D. M. (2005) Mitochondrial DNA mutations in human disease. Nature Reviews Genetics 6, 389-402
23. Thibodeau P. H., et al., (2010). The cystic fibrosis-causing mutation deltaF508 affects multiple steps in cystic fibrosis transmembrane conductance regulator biogenesis. J. Biol. Chem.285, 35825–35835
24. Transtutors.com. 2014. Gene Abnormalities and Disorders Help for Chromosomes - Transtutors. [online] Available at: http://www.transtutors.com/homework-help/biology/chromosomes-genetic-disorder/gene-abnormalities-and-disorders.aspx [Accessed: 21 Mar 2014].
25. Viguera, E., et al. Replication slippage involves DNA polymerase pausing and dissociation. EMBO Journal 20, 2587–2595 (2001)
Pierron, D. Chang, I. Arachiche, A. et al. 2011. Mutation Rate Switch inside Eurasian Mitochondrial Haplogroups. Plos one 6(6): e21543.
It is caused by mutations to the cystic fibrosis transmembrane conductance regulator(CFTR) gene. Located on human chromosome 7, the CFTR gene is made up of 250,000 DNA nucleotides.
Cystic fibrosis is one of the most common lethal mutations in humans. The autosomal recessive allele is carried by 1/20 Caucasians, 1/400 couples will have children with the disease, and ¼ children will be afflicted. If untreated, 95% of affected ch ildren will die before age five (Bell, 1996).
This genetic disorder is not specific to a certain age, ethnic group, or gender; theref...
DNA is continuously evolving as it has developed various aspects of illicit cases, as well as playing vital roles in all cellular systems. The discovery of DNA has impacted and will trigger the fuel of new findings later in the future. DNA does not only significantly affect a cell’s function, but it aids the species to develop and reproduce, despite the altering conditions.
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.
Mitochondria originally existed as a single celled organism, but were then engulfed by a eukaryotic cell. Thereafter, these organisms displayed an endosymbiosis relationship. Mitochondrial DNA is inherited from the maternal parent. Due to this fact, mtDNA is a useful molecule for studying point mutations, because there is no crossing over in mtDNA. Furthermore, the point of this lab was to analyze how mtDNA changes over time and from the changes in the mtDNA determine material linage and haplogroup. In this experiment, the hyper variable region I was analyzed to determine the haplogroup and the haplotype of a specific individual. Mitochondrial DNA was extracted, amplified, purified, and then ran through a gel. The 1% agarose gel displayed that
Mitochondrial DNA (MtDNA) is inherited from the mother and passes down from female generations. For that reason, molecular biologists are able to link DNA from one person to a relative. I found it peculiar that albeit this specific genetic material is located in the mitochondria, which are housed within the eukaryotic cells and those cells have been reported to contain mostly introns; non coding sequences, this would be a reliable source for DNA.
In 1989, molecular biologist Norton Zinder said,”Today we begin” (Begley 56). With these words, Zinder and the National Institutes of Health (NIH), formally launched a monumental effort that could rival in scope both the Manhattan Project, witch created the A-bomb, and the Apollo moon-landing program-and may exceed them in importance (Jaroff95). The Program will map the human and spell out for the world the entire message hidden in its chemical code. Robert Sinsheimer of the University of California at Santa Barbara says,”The human gene is the complete set of instructions for making a human being “(Begley57). The achievement of the project would launch a new era in medicine. They would be able to predict an individual vulnerability and could eventually develop new drugs to treat or even prevent them. Though they may not have known, thi...
Every cell in our body contains a copy of our genome. A human body contains over 20,000 genes and 3 billion letters of DNA. DNA consists of 2 strands, twisted into a double helix and held together by a simple pairing rule: A pairs with T and G pairs with C. It is our genes that shape who we are, as individuals and as a species. Genes also have profound effects on health and due to advancements in DNA sequencing, researchers have identified thousands of genes that affect our risk of disease. To understand how genes work, researchers need ways to control them. Recently a new method has been developed that allows us to edit the genes of any species including humans. The CRISPR method is based on a natural system used by bacteria to protect themselves
The use of genetic sequencing in the medical field has innumerable possibilities; genomic medicine, as this new field is now called, will enable the human race to make immense advances in understanding how our genetic heredity makes us susceptible to some illnesses and immune to others. The detection of diseases with a high rate of heredity is just one facet of the gem that is genomics; once researchers are able to map out all of the vital components and rare alleles that sometimes play a large factor in disease, it will be possible to target these specific gene combinations, functional elements, and alleles. Because of the fact that protein, produced by our cells’ ribosomes, has an effect on the pathways that help express our inherited traits, it is important that we understand the relationship between DNA and protein, and how this affects the phenotype of an individual’s genetic attributes. For example, sickle-cell anemia is caused by a flaw in one nitrogenous base sequence in DNA. This flaw then translates into RNA, then into amino acids that determine the phenotype that the subject will have. The discrepancy in something as minute as a nitrogenous base and one amino acid makes the difference between a healthy, normal life and a life ...
Is it possible to eradicate disease entirely? A half-century ago, little was known about how disease was affected by genetics. In 1953, James Watson and Francis Crick discovered the double helix structure of DNA. In the mid 1970’s, ways were developed to determine the order, or sequence, of the chemical letters in DNA. The Human Genome was completely unknown to man until 1990, when the National Institutes of Health (NIH) and the Department of Energy teamed up with international partners to complete the entire 3 billion base pairs of the Human Genome. The goal of this project was to understand the genetic factors in human disease and to hopefully find ways to diagnose, treat, and prevent disease. The Human Genome project has supported an Ethical, Legal and Social research program to address the many issues that might arise from this study. The Human Genome Project should continue because it has the potential to unlock the cure to countless diseases.
... and therefore mitochondrial DNA is inherited only from the mother. Thus this DNA would be a unaltered sequence passed strictly along maternal lines and only changing by accident or mutation.
2. "Rett syndrome." Holly A. Ishmael, MS, CGC. The Gale Encyclopedia of Genetic Disorders. Ed. Laurie Fundukian. 3rd ed. Detroit: Gale, 2010. 2 vols.
The scientific and medical progress of DNA as been emense, from involving the identification of our genes that trigger major diseases or the creation and manufacture of drugs to treat these diseases. DNA has many significant uses to society, health and culture of today. One important area of DNA research is that used for genetic and medical research. Our abi...