A Statement on the Fragile X SyndromeA Statement on the Fragile X Syndrome

A Article on the Fragile X Syndrome

Introduction Fragile X syndrome is usually the most typical reason behind inherited mental retardation, observed in approximately one in 1,200 men and one in 2,500 females. Males with fragile X syndrome will often have mental retardation and frequently exhibit characteristic physical features and tendencies [Hagerman and Silverman, 1991; Warren and Nelson, 1994]. Affected females exhibit an identical, but usually less severe phenotype.

The diagnosis of fragile X syndrome was formerly predicated on the expression of a folate-sensitive fragile internet site at Xq27.3 (FRAXA) induced in cell culture under circumstances of folate deprivation. Cytogenetic analysis of metaphase spreads demonstrates the occurrence of the fragile internet site in significantly less than 60% of cells generally in most damaged individuals. The cytogenetic test has limitations, specifically in tests for carrier position, and it exhibits a higher amount of variability between individuals and laboratories. Likewise, interpretation of the cytogenetic check for fragile X syndrome is normally complicated by the occurrence of other fragile sites in the same place of the X chromosome (FRAXD, FRAXE, and FRAXF).

In 1991, the fragile X gene (FMR1) was characterized and determined to contain a tandemly repeated trinucleotide sequence (COG) near its 5' end. The mutation in charge of fragile X syndrome will involve expansion of this repeat segment. The quantity of CGG repeats in the FMR1 genes of the normal populace varies from six to roughly 50. There are two main types of mutation, premutations of around 50 to 200 repeats and complete mutations greater than approximately 200 repeats. There is absolutely no clear boundary between your upper limit of normal and the low limit of the premutation assortment. For this reason, alleles with roughly 45-55 copies of the repeat are said

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