Wednesday, February 18, 2009

How does a person inherit this genetic disorder? Is it dominant or recessive? Is it genetic or chromosomal?

Fragile X Syndrome is a mutation located on the FMR-1 gene. This disorder is full blown when the CGG sequence is copied more than 230 times. The sequence CGG codes for Arginine. When a person has between 54 and 230 copies of the CGG sequence they are a carrier and have no symptoms of the disorder. Although carriers have no signs of the disorder, they may pass it on to their children. A female that is a carrier for the disorder there is a 50% chance that her child will have the full syndrome and show signs of the disorder. When a person has more than 230 copies of the CGG sequence, they show signs of the disorder and can pass the disorder on to their children. When there are more than 230 copies of the CGG sequence, the FMR-1 gene is disabled. The FMR-1 gene plays a large roll in the development of the brain, so this is why many people with Fragile X Syndrome suffer from mental retardation or other mental issues. This gene is located on the X Chromosome, so Fragile X Syndrome is a X-linked disorder. Since the disease is X-linked, there are roughly twice as many males with Fragile X Syndrome as females (this includes carriers). This disease is genetic so it is passed on from generation to generation.

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