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
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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].
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