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Essay on Evaluation of the Fragile X Syndrome

Assignment id 1009118
Discipline Other
Assignment type Essay
Words 2947
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"Fragile X Syndrome (also called FXS) is the most common cause of inherited mental retardation." (2011, University of Michigan Health System). "The gene on the X chromosome which causes FXS is known as the Fragile X Mental Retardation 1 (FMR1) gene. The FMR1 gene produces a protein that is required for normal brain growth." (September 1, 2006. Department of Human Health and Services Center of Disease Control and Prevention.) If this protein isn't created, that is when FXS occurs. Fragile X Syndrome is referred to as a chromosomal sex-linked trait. A change or mutation in a gene in the X chromosome causes the Fragile X Syndrome. As human beings we now have 46 chromosomes. These 46 are two genes that are sex linked. These two chromosomes determine whether you're female or male. If you're male, then your chromosomes are still an X and a Y. If you are female you have two Xs. For instance, when reproduction occurs every child receives a set of chromosome from each parent, there is an opportunity that out of four kids, 2 will have this disorder. (Please refer to the graph below) Father with Muta0ted Gene MotheDr with Mutated Gene DOD0 0 =Male =Abnormal FMR1 Gen b =Female =Regular FMR1 Gene  Fragile X Syndrome is one of the genetic disorders that are grouped into what is known as trinucleotide. "DNA consists of four chemical building blocks known as nucleotides: A, C, T, and G." (September 1, 2006. Department of Human Health and Services Center of Disease Control and Prevention.) If the trinucleotide repeat disorders repeat, they use 3 of these nucleotides. In everyone’s DNA it repeats, but it's just "dangerous" when they replicate many times, which causes the enzymes to not work properly. "A typical FMR1 gene includes between about 6 and 45 CGG repeats...

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