PP27. APPLICATIONS OF CYTOGENETIC AND MOLECULAR GENETIC TESTING IN INDIVIDUALS WITH MENTAL RETARDATION
ULKU OZBEY, Murat Kara, 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 the most common familial form of mental retardation. This X-linked disorder affects one in every 1000 males and one in every 2000 females. A fragile site at the distal long arm of the X chromosome (Xq 27.3) is the hallmark cytogenetic feature of the syndrome. Although fragile X syndrome follows an X-linked pattern of inheritance, females can also be affected. In this study, 72 cases with MR who were sent to our laboratory for molecular and cytogenetic search in term of fragile X. Fragile X can be diagnosed cytogenetically by searching metaphase chromosomes in the culture of lymphocytes using basal medium without folic acid. For each case at least 100 metaphases were evaluated for fragile X. A chromosome abnormality was found in 12 (9.7%) cases. Fragile-X testing by PCR analysis found 7 (9.7%) with an abnormal result. The mutations detected were: a full mutation and abnormal methylation in (43%), mosaic mutations with partial methylation of variable clinical significance in (43%) and a premutation carrier (14%). The frequency of chromosome and fragile-X abnormalities appears to be within the range in reported surveys. fifteen percent of chromosome abnormalities detected in our study were subtle. The higher incidence of mosaic fragile-X mutations with partial methylation compared to FRAXA positive. Due to recent molecular advances, our understanding of the perplexing genetic issues surrounding fragile X syndrome has grown and diagnostic techniques have become both reliable and readily available.




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