Essay on Fragile X Syndrome

Essay on Fragile X Syndrome

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One term that I have heard used out of context a numerous amount of times, which is very misused, is the term “retarded”. This term has been used by your average Joe and is used in terms of joking matters, or has even been used in movies as a joke. The meaning behind this term is actually nowhere near joking matters and someone who is considered in “mental retardation” conditions lives a dysfunctional life compared to your average Joe that is using this term out of its actual use. Mental retardation comes in different forms to different extents varying across different conditions. A mutation is essentially a change in the nucleotide sequence of the genome of an organism, in this case, us humans. Mutations can or cannot produce discernible changes in the phenotype, and these mutations typically result from “permanent” or unrepaired damage to the DNA, which can vary from errors in the process of replication to any sort of alteration in the segments/sequences of DNA, insertion or deletion as an example. My objective in this paper will be to inform the reader on a syndrome that consists of this sort of mutation. Several sources, although varying slightly, have the general estimate of how often this syndrome that I present today is prevalent in humans, which roughly falls around 1/4000 males and about 1/6000 females.
Of the varying types of mental retardations, my focus will be the fragile X syndrome. The fragile X syndrome is a common form of mental retardation. This syndrome is known as the X syndrome due to the site of the mutated gene, which is located on chromosome Xq27.3. According to many sources, the mutated gene in the fragile X syndrome is widely to carry the name of the FMR1 gene. As stated in “The Metabolic and Molecular B...


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...ments in cognition, language and behavior in half if not most of the individuals as judged by their parents or surroundings. Although not one study or medicine shows exactly a cure, my knowledge of the studies I was enlightened by, provide a gateway of information to come up with and find a pathway that will increasing get rid of fragile X syndrome.
In conclusion, mutations of a small physiological substrate, gene, code or whatever it may be can alter a greater function. In the case of fragile X syndrome, repetition of the same codon can definitely have a big impact on the genotype and phenotype of an individual. A mutation especially, is more likely to have the smallest affect if not a large one on an individual cause of the shift that it causes with the “original code”. But this is one of many mutations and more generally syndromes, others may be worse or better.

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