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Fragile X Syndrome Essay

2317 words - 10 pages

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 Basis of inherited Disease”, the fragile X syndrome is case of repeated codons, which seem to get inserted repeatedly in the sequence of the 5’-UTR. This repetition varies amongst normal individuals without this mutation because those who are blessed to not carry this mutation don’t carry that repetition and normally have AGG interruptions. According to this 8th edition of the “The Metabolic and Molecular Basis of inherited Disease”, a normal Caucasian contains about 30 repeats and 2 AGG interruptions which occur at positions 10 and 20, but in affected individuals with the fragile X syndrome, the repeat of the CGG codon is expanded fairly above 230 repeats with a remarkable mean of approximately 780 repeats. A result of these expansions could be involved in the event of instability at the molecular level. Not 100%, but it could be slippage of the replication fork during replication. Unpaired bases form loops, which result in expansions or contractions in a coming around of replication, depending on whether the looped repeats are located in the temple strand or the newly synthesized one. Now based on what we learned in lecture, in summary, methylation could alter and suppress the expression of a specific gene by making...

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