Fragile+X+Syndrome

toc = = =__Fragile X Syndrome__=

__What is Fragile X Syndrome???__
Also known as Martin-Bell syndrome, this is a gene mutation of the FMR1 gene on the [|X Chromosome]. This is also the most common form of inherited mental retardation. A gene mutation is a mutation of the DNA sequence that forms the gene. Fragile X can also be a hereditary mutation because this mutation is passed down from generation to generation. It can also be classified as an insertion mutation. Other effects of this mutation can be physical and behavioral such as a long face, big ears, cluttered or nervous speech, stereotypical movements, shyness, and autism. If the gene was not mutated you would just be normal and most likely not have any of the affects of the mutation.

__Fragile X Chromosome:__
The gene on the X chromosome that is mutated is the FMR1 gene. This gene originally contains between 6 and 55 repeats of the CGG codon. The people with Fragile X have over 255 repeats of this codon. The site of this mutation occurs Xq27.3. The X meaning the X chromosome and q meaning the half of the chromosome. From this they said that the FMR1 gene is located between the base pair 146,801,200 and base pair 146,840,302.





__Inheritance of Fragile X Chromosome:__
This mutation is inherited on the X chromosome which makes females with the mutation less affective and the males would have a more severe case of Fragile X syndrome. With this it makes the dominance a dominant- recessive trait.

__Treatment and Research:__
There is no cure for this, so the treatments would be behavioral therapy, special education, and sometimes medications and abnormality treatments. Current research that is being done for this is by a group called Fraxa.

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By Deanna

__Resources:__
What is Fragile X Syndrome http://en.wikipedia.org/wiki/Fragile_X_syndrome What is Fragile X Syndrome http://www.medicinenet.com/fragile_x_syndrome/article.htm What is Fragile X Syndrome http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/genemutation