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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)
In this lab we amplified a region of DNA that is found in the mitochondria. Mitochondria have their own set of DNA. Mitochondrial DNA has “16,500 DNA building blocks (base pairs), representing a small fraction of the total DNA in cells. — Mitochondrial DNA contains 37 genes,” (Genetics Home Reference, NIH, 2014) The part of the DNA that we amplified was the D-loop region. This part of the mitochondrial genome is the origin of replication for the mitochondria. This part of the mitochondria is also “prone to somatic mutation, which are a type of non-inherited mutation.” (Genetics Home Reference, NIH, 2014) One’s mitochondrial DNA is only inherited from the maternal side. The reason why is because when “an egg cell is fertilized, nuclear chromosomes from a sperm cell enter the egg and combine with the egg’s nuclear DNA producing a mixture of both parents’ genetic code.” (Groleau, PBS, 2014) Since the mtDNA is the exact same as the mother’s one can trace back the lineage of their maternal side and trace from what part of the world they are descended from. The mtDNA contains a history storybook of the travels and nomadic paths their ancestors took before their creation. The purpose of amplifying this region of mtDNA is to trace back our lineage.
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).
What is Myotonic Dystrophy?. Genetics Home Reference. November 2006. US National Library of Medicine. February 9, 2009. < http://ghr.nlm.nih.gov/condition=myotonicdystrophy>.
2. "Rett syndrome." Holly A. Ishmael, MS, CGC. The Gale Encyclopedia of Genetic Disorders. Ed. Laurie Fundukian. 3rd ed. Detroit: Gale, 2010. 2 vols.
This genetic disorder is not specific to a certain age, ethnic group, or gender; theref...
...l electrophoresis (SCGE) also known as comet assay has become one of the standard methods for assessing DNA damage, with applications ranging from testing genotoxicity, human bio-monitoring and molecular epidemiology to its use in fundamental research in DNA damage and repair (Collins, 2004). The comet assay is a simple method for detecting DNA strand breaks within cells in eukaryotes. The procedure of comet assay includes Embedding the cells in agarose in a microscope slide, followed by lysing of cells with detergent and high salts to form nucleotides containing supercoiled loops of DNA linked to the nuclear matrix, and then undergoing Electrophoresis at high pH, which results in formation of structures resembling as comets, observed by fluorescence microscopy. The intensity of the comet tail relative to the head reflects the number of DNA breaks (Collins, 2004).
Tsou, J. A., Hagen, J. A., Carpenter, C. L., & Laird-Offringa, I. A. (2002, August 05). DNA
Mitochondrial DNA is relatively short, only 16 569 bp long, and codes for just 37 genes. It has been completely sequenced (the order of the bases has been worked out) and is very well studied and understood by molecular biologists. There are about 800 m...
Shortly after the groundbreaking discovery of the structure of DNA in 1953, the scientific world was essentially given the ability to alter the genetic sequence of any living organism using a process known as 'genetic engineering'. By definition, genetic engineering is 'the deliberate modification of the characteristics of an organism by manipulating its genetic material', it is quite simply an unnatural process which defies the ordinary course of nature. As of yet, no devastating or permanent damage has been done. However, the unpredictable nature and unknown consequences genetic engineering holds is more than enough reason to be cautious, as one mistake could have irreversible and catastrophic effects.
... 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.
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.
Discoveries in DNA, cell biology, evolution, and biotechnology have been among the major achievements in biology over the past 200 years, with accelerated discoveries and insight’s over the last 50 years. Consider the progress we have made in these areas of human knowledge. Present at least three of the discoveries you find to be the most important and describe their significance to society, health, and the culture of modern life. DNA (deoxyribonucleic acid) is a self-replicating molecule or material present in nearly all living organisms as the main constituent in chromosomes. It encodes the genetic instructions used in the development and functioning of all known living organisms and many viruses.
Taking the theory of paternal mtDNA leakage during embryogenesis into account, the process of embryogenesis needs to be studied. Embryogenesis is the formation and development of embryos where after the egg is fertilized by the sperm, the sperm mitochondria enter the egg cell. Here in the egg is where the sperm mitochondria are outnumbered by the maternal mitochondria and are killed through a mechanism that identify the ubiquitin sperm are tagged with. Thus paternal mitochondria do not transmit to further cell stages of embryo development and mtDNA is solely believed to be maternal in inheritance. Taking the case study into account, the question that is raised is how paternal inheritance of mtDNA could have occurred if embryogenesis prevents it. Therefore, the further research in recombination of mtDNA can be conducted to see if mtDNA can be similar to nuclear DNA, where mtDNA can be incorporated or fused from many sources (Bromham et al 2002).
Thymine: Combining with Adenine this nucleobase is often replaces with uracil in RNA. It is also the common cause of mutations in DNA. When in the presence of ultraviolet light, radiation causes alterations in the DNA molecule that inhibit normal...