Results of the use of the new medical technology to determine microdeletions 22q11.2 by microsatellite analysis on patients with velo-cardio-facial syndrome / DiGeorge syndrome

DiGeorge syndrome (OMIM 188400) and velo-cardio-facial syndrome (VCFS) (OMIM 192430) constitute a group of «CATCH 22», which is characterized by microdeletions of different lengths in the chromosome 22q11.2 region. Microdeletion rate is quite high, and is 1 in 4000 live births in the population, making this disease one of the most common microdeletion syndromes. At the present time to identify microdeletions along with standard high-resolution chromosome analysis methods, comparative genomic hybridization, FISH analysis, fragment analysis and multiplex ligation reaction are used. The advantages of microsatellite analysis are speed, efficiency and cheapness. We present the results of DNA diagnostics on 389 patients, referred to the laboratory with a diagnosis of CATCH 22, using the medical technology which is an effective method of rapid detection of deletions of chromosome 22 sequences by amplification of highly polymorphic microsatellite DNA loci. The diagnostic panel includes STR-markers mapped in a critical region of chromosome 22. Markers D22S264 , D22S1638 , D22S941 , D22S873 , D22S4 , D22S1709 are located in the smallest region of overlap of all deletions identified to date. Diagnosis is carried out on DNA obtained from peripheral blood lymphocytes of patients and their parents. DNA diagnostics is possible to confirm the diagnosis in the case of fetal death or premature death of the child on the formalin-fixed paraffin embedded autopsy material.

вело-кардио-фациальный и ДиДжорджи синдромы, делеция хромосомы 22q11.2, микросателлитные маркеры, микросателлитный анализ, velo-cardio-facial syndrome / DiGeorge syndrome, microdeletions 22q11.2, STR-markers, microsatellite analysis

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