THE RESULTS OF MOLECULAR AND CYTOGENETIC ANALYSIS IN 6 FAMILIES WITH FRAGILE - X SYNDROME IN TURKEY

Authors : İbrahim Keser, Güven Lüleci, Mualla Alkan

Pages : 7-10

View : 20 | Download : 9

Publication Date : 2016-12-03

Article Type : Research Paper

Abstract :Objective: The aim of this study was to optimize the diagnosis of the fragile X syndrome in six large families with fragile X syndrome in Turkey. Methods: Southern blot analysis was performed to identify the mutations of the FMR 1 gene localized on FRAXA locus using StB12.3 probe among 36 members insert ignore into journalissuearticles values(19 males, 17 females); of fragile X families and controls insert ignore into journalissuearticles values(8 males, 8 females); following cytogenetic analysis by fragile X induction methods. Results: Eleven males and 9 females had full mutations, while 7 males and 3 females had normal range of CGG repeats. One female who was found positive by cytogenetic analysis had mosaic mutation insert ignore into journalissuearticles values(Y2[ll-3] with 6.0, 5.2, 2.8 kb fragment sizes);. Five females had premutations and 1 male had atypical fragment pattern. Conclusion: We suggest that, diagnosis of fragile X syndrome is not possible only by cytogenetic analysis. For appropriate counseling it is recommended that all members of the fragile X family under risk should be screened both by cytogenetic and molecular methods. Key Words: Fragile X syndrome, DNA analysis, Mosaicism, StB12,3 probe.
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