MLPA Method in Identifying a Family Case of Chromosome 22 Deletion Syndrome
Deriabina S.S., Karakina M.L., Tuzankina I.A.
FGBUN Institute of Immunology and Physiology, Ural Branch of Russian Academy of Sciences, Yekaterinburg, Russian Federation
Abstract. Chromosome 22 deletion syndrome (СD22) is a heterogeneous group of diseases characterized by clinical phenotype polymorphism. For identification of the deletion was chosen MLPA-method, having a number of privileges. We made a genetic investigation of family members having different phenotypic CD22 features by MLPA. We hypothesized that the length of the deletion affects the formation of phenotypic features.
Keywords: molecular genetic studies, MLPA-multiplex ligation PCR amplification, chromosome 22 deletion syndrome, phenotypic features
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Authors
Deriabina Svetlana S., svetlana.343@yandex.ru
Institute of Immunology and Physiology of Ural Branch of Russian Academy of Sciences, Regional Medical Center «Health Care of Mother and Child»
Junior Researcher, biologist
Russian Federation, 620049, Yekaterinburg, Pervomayskaya Str., 106
Karakina Marina L., mkarakina@gmail.com
Institute of Immunology and Physiology of Ural Branch of Russian Academy of Sciences, Region Children Hospital №1, Region Hospital №1
PhD, Research associate, immunologist
Tuzankina Irina A., ituzan@yandex.ru
Institute of Immunology and Physiology of Ural Branch of Russian Academy of Sciences, Region Children Hospital №1
Professor, Doctor of Medicine, Main Research Fellow, the Head of Region Clinical Immunology Center, Chief immunologist of Sverdlovsk Region