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Cell Journal، جلد ۱۳، شماره Supplement، صفحات ۰-۰
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عنوان انگلیسی P-21: Genetic Analysis of Rett Syndrom Among Patients from Iranian Azeri Turke Ethnic Group
چکیده انگلیسی مقاله Objective: Rett syndrome is a progressive neurodevelopmental disorder which almost exclusively manifests in girls. Rett syndrome (RTT), with an incidence of 1 in 10000-15000 girls, is thought to be the one of the most common genetic causes of mental retardation in females. About 80% of girls with classic RTT and 20-40% of variant forms of this syndrome have mutations in the X-linked MECP2 (methyl CpG binding protein 2) gene. Until now, more than 200 different MECP2 mutations are identified in RTT cases. Interestingly, there are 8 recurrent mutations that account for the majority of Rett cases (R106W.R133C, R168X, T158M, R255X, R270X, R294X and R306C). Materials and Methods: We performed genetic analysis of 27 Iranian Azeri Turkish patients with Rett syndrome .The patients were reviewed by pediatric neurologist. We carried out amplification refractory mutation system-polymerase chain reaction (ARMSPCR) strategy for identification of these eight common mutations in patients. Results: This is the first genetic study of its kind in North-west of Iran and it enabled us to give the patients an early confirmation of RTT diagnosis. In this study, we have been able to identify ≅ 30% of mutations in these patients. Conclusion: We recommend screening for these eight common mutations before analyzing the whole coding region.
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نشانی اینترنتی http://celljournal.org/journal/article/abstract/1553
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