Fragile X Syndrome

slender X syndrome is the most common genetically inherit mental strain of mental retardation currently known. In addition to reason disability, some unmarrieds with Fragile X vaunt common carnal traits and characteristic facial features, such as prominent ears. Children with Fragile X often appear conventionalism in babyhood but develop representative somatic characteristics during their lifetime. Mental injury may range from mild culture disability and hyperactivity to gross(a) mental retardation and autism. This genetic syndrome is caused by an blowup of iterate segment of FMR-1 gene on X chromosome. Because of scientific advances, improvements in genetic testing, and change magnitude awargonness, the telephone consider of children diagnosed with Fragile X has addd significantly over the last go (Stephen and Allan, 2000). Although the expression spot of the FMR-1 gene is not fully understood, it appears to be important premature in development. The mechani sm by which the normal FMR-1 gene is reborn into an altered, or mutant, gene capable of cause disease symptoms involves an increase in the distance of the gene. At the 5 surface area of the FMR-1 gene, the CGG nucleotide rank undergoes repeated duplications, forming deoxyribonucleic acid (desoxyribonucleic acid) repeats that result in a longitudinal gene. The lengthened DNA region is vulnerable to a chemical substance modification process called DNA methylation.

When the exit of repeats is small (usually from 50-200), as in the grimace of premutation, the individual often has no signs of the disorder. Howev er, in individuals with a larger number of r! epeats (more than 200), as in the case of full mutation, the characteristics that are typical of Fragile X are observed (Stephen and Allan, 2000; Frank, 2000). In families that uncover Fragile X, both the number of repeats and the length of the chromosome increase with come through generations. The severity of the symptoms increases with the increasing length of the... If you want to get a full essay, order it on our website: OrderCustomPaper.com

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