Analysis of the Fragile X Syndrome

"Fragile X syndrome (also known as FXS) is the most common cause of hereditary mental retardation" (University of Michigan Health Systems, 2011). "The gene on the X chromosome that causes FXS is called the fragile X mental retardation 1 (FMR1) gene.FMR1 gene is a protein necessary for normal brain development." (September 1, 2006 Day and Prevention Center.) When such proteins are not produced, ie when FXS occurs. Fragile X syndrome is the so - called chromosome - linked trait.

Cytogenetic analysis of Fragile X syndrome was first confirmed when the diagnosis of syndrome and carrier status was determined by culturing the cells in a medium lacking folic acid in the late 1970s and then the "brittle site" was evaluated for the first time (Staining discontinuity in the 3 nucleotide region). Repeat with long arm of X chromosome). However, this method is proved to be unreliable as vulnerable parts often occur in less than 40% of individual cells. This is not a problem in men, but for female carriers, fragile parts are usually found in only 10% of the cells, mutations are usually not visible.

Fragile X syndrome is the most common mental disorder affected by one out of 4,000 boys in the United States and one out of 6,000 to 8,000 girls (CDC, 2015 f). It is caused by a mutation in the gene on the X chromosome. Fragile X syndrome can cause learning disabilities, language and language delay, ADHD and anxiety (CDC, 2015 f). Fragile X syndrome can not be cured, but early intervention is very beneficial for children and families affected by this syndrome. Down's syndrome is another genetic disorder with an extra copy of chromosome 21 rather than a typical two copies (Leahy, Fuzy & Grafe, 2013). People with Down Syndrome usually have large physical features such as small skull, flat nose, short fingers, the first two digits of hands and feet wide (Leahy, Fuzy, Grafe). Different levels of tongue mental retardation

Introduction Fragile X syndrome is the most common cause of hereditary mental retardation, with one in about 1,200 men and one in 2,500 men. Men with fragile X syndrome usually have mental retardation and often exhibit distinctive physical features and behaviors. Affected women show a similar, but less severe phenotype. Diagnosis of Fragile X syndrome was based on the expression of folate sensitive fragile site (FRAXA) of Xq 27.3 originally induced in cell culture under folate deficiency conditions. Cytogenetic analysis of metaphase spreads indicated that less than 60% of the most affected individuals had fragile sites. Cytogenetic testing has limitations, especially when it detects the state of the vector exhibiting a high degree of variability between the individual and the laboratory.