Molecular Screening of Fragile X Syndrome in Children with Mental Retardation in Hualien

Jui-Hung Yen, Wei-Chieh Chen, Ching-Cherng Tzeng, Jye-Siung Fang, Shao-Yin Chu
2008 Tzu-Chi Medical Journal  
Objective: Fragile X syndrome is the most common inherited form of X-linked mental retardation (XLMR). The aim of this study was to screen for and identify fragile X syndrome-affected individuals using DNA-based molecular approaches at a special education school for the mentally retarded in Hualien, Taiwan. Materials and Methods: Genomic DNA extracted from 217 individuals with mental retardation, including 148 males and 69 females, was analyzed using polymerase chain reaction, DNA gel
more » ... resis and Southern blot analysis. Individuals with the full mutation or premutation were determined according to the CGG repeat size in the 5'-untranslated region in the FMR1 gene on chromosome Xq27.3. Results: A total of 217 individuals with mental retardation were screened, and three (1.38%) were identified as having fragile X full mutation. Two of the 148 males (1.35%) and one of the 69 females (1.44%) had this mutation. The incidence is very close to that in previous reports in Western Taiwan. Female carriers of fragile X syndrome were not found in this study. Conclusion: We established a molecular screening approach and report the incidence of fragile X syndrome in a mentally retarded population in Eastern Taiwan. The molecular study and genetic counseling for other family members will continue in the future. [Tzu Chi Med J 2008;20(4):309-313]
doi:10.1016/s1016-3190(08)60056-7 fatcat:p4a2fcycybcjhogn2ethgfxsym