Essay about Fragile X Syndrome

In my search for find a unusual genetic disease in the wonderful land of www-dot-coms, an extremely annoying popup protruded my personal view in the Google search. Initially, what I thought I saw was obviously a furniture advertisement. At second glance, it appeared to be some type of " Wanna see my net cam". However just as My spouse and i clicked on the tiny, conveniently placed " X" in the corner of the window, I could see them. The text " rare genetic disease" and Fragile X were strewn throughout the porthole, which will lead right into a dreamland of information. A close this article and I was on my way in to Ms. Frizzle of the Magic School Bus's classroom, merely waiting to become educated. (Of course, you will discover no Magic School Tour bus books discussed Fragile X, my newly found rare hereditary disease good friend. )

Sensitive X symptoms affects one in four 1, 000 males, and one in every single eight 1, 000 females around the globe. Its features include learning disability of varying severity, and behavioral problems such as hyperactivity and autistic tendencies. Fragile X's physical qualities include a extended face, misaligned ears, lax joints, and males: bigger testes. There is absolutely no cure, although there is some evidence that treatment of the associated behavioral and educational complications can be useful.

Vulnerable X symptoms is caused by a mutation from the FMR-1 gene on the Back button chromosome (hence, fragile X" ). The connection to the X chromosome makes it sex-linked. The FMR-1 gene contains a sequence that consists of a varying number of repeats of the trinucleotide CGG, (representing cytosine and guanine). The sequence occurs in a part of the gene that is translated although not transcribed during protein synthesis. In a usual human, the amount of CGG repeats varies between 5 and about 50. Pertaining to members with Fragile X, the repeats last past 200, a condition known as a Complete Mutation (known as FM). The full mutation prevents transcribing of the FMR-1 gene, in order that non-e of its protein product is made. Males have only one X chromosome, thus if that they carry a FM...