Establishment And Comparion Of Diagnostic Methods For Fragile X Syndrome

Objective:Fragile X syndrome (FraX) is a common inherited mental retardation in humans , with a frequency of approximately 1 in 4000 males and 1 in 6000 females . The disorder is caused by a mutation in the FMR1 gene which involves an increase in length of a stretch of CGG trinucleotide repeat and methylation of the CpG island . Polymerase chain reaction (PCR) is a common diagnostic method for FraX . The aim of the present study is to establish immunocytochemisty diagnostic method of fragile X syndrome, and use the new method to comparesion with PCR method.Methods:Establishment of immunocytochemisty diagnostic method and PCR mehod for fragile X syndrome . 64 patients with mental retardation of unknown cause and 4 mentally normal persons were analysed by the two diagnostic methods.Resulst:1) The immunocytochemisty is more simple , quick and economical way to diagnose fragile X syndrome than PCR method .2) The length of the (CGG) n repeat sequences of the 64 patients...