PP28. MOLECULAR SCREENING OF FRAXA AND FRAXE MENTAL RETARDATION SYNDROMES
Ebru Etem, Ulku Ozbey, HUSEYIN YUCE Firat University, Firat Medical Center, Medical Biology and Genetic Department,23119,Elazig, TURKEY e-mail: uozbey76@hotmail.com
*Corresponding Author:
page: 59

Abstract

Fragile X syndrome is an important cause of mental retardation. The fragile X (FRAXA) syndrome is the most common form of inherited mental retardation in males. Its peculiar pattern of inheritance results from the parent of origin-specific expansion of a CGG-repeat within the FMR1 gene on the X chromosome. FRAXE is a second locus associated with X chromosome fragility. Similar to FRAXA, the common mutation is a GCC expansion located in the 5' untranslated region, leading to the hypermethylation of the region and to the subsequent inactivation of specific genes (FMR1 and FMR2, respectively). In patients, gene function is abolished by hypermethylation of the promoter and the massively expanded repeat. The aims of this screening were to determine the prevalence of FRAXA and FRAXE syndromes among idiopathic mentally retarded (IMR) individuals. Subjects a total of 80 unrelated individuals were referred strictly as IMR to our Medical Biology and Genetic Department laboratory. We have use a methylation-sensitive polymerase chain reaction (MS-PCR) strategy for diagnosis FRAXA and normal PCR for FRAXE. No FRAXE patients were identified among the 80 IMR males. Seven cases of all were FRAXA(+) (8.75%), 7.5% (6) male and 2.5%(1) female. Molecular genetic analysis challenge for its diagnostic evaluation in the laboratory and for the genetic counseling of affected families. PCR test is not suitable for the medical diagnosis of females and mosaics, it constitutes an important tool for FRAXA and FRAXE screening in a population comprised mainly of special education-needs males.




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