Analysis of fragil X in patients with mental retardation

ANALYSIS OF FRAGIL X IN PATIENTS WITH MENTAL RETARDATION Student's Surname and name: KAVAK Fikriye Fulya Adviser of Thesis: Dr. Diclehan ORAL Department: Institutes of Health Sciences, Medicine Biology, Master Thesis, Diyarbakır, 2019 İngilizce Özet- Abstract Aim: Fragile X syndrome is a genetic disease that is the second most common cause of Down's syndrome. The reference range for FMR1 trinucleotide repeat length has four categories. CGG repeats are normal, repetitions in the 45-54 range are in the "gray zone", repetitions in the 55-200 range are "premutations", at least 200 CGG repeats are called "full mutations". Materials and Methods: This study was carried out with DNA samples from peripheral blood taken from 3-15 years old children who were diagnosed as Fragile X Syndrome in Dicle University Medical Faculty Hospitals Medical Biology Department Genetic Laboratory. Result: Of the 53 children, 21 (39.6%) were males and 32 (60.4%) were females. In the analysis, 2 out of 53 children were identified in the gray zone. According to our results, 11.3% of the 53 pediatric patients had FXS full mutation, 3.7% had gray zone and 85% had normal range. Conclution: Molecular genetic examinations should be made for FXS in children with MR, developmental disorder, speech difficulties and autism, and in patients with MR. When full mutation cases are detected, it is necessary to investigate the risks of premature carriage of other individuals in the family and determine their risks. Thus, by providing appropriate genetic counseling to individuals, the person, his / her family and future generations can raise awareness about the disease and decrease the frequency of Fragile X in the general population. Keywords: Fragile X, Autism, Mental Retardation, FMR1, Trinucleotide Repetitive Diseases