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Information × Registration Number 0212U007056, 0110U006119 , R & D reports Title Creating a prototype of test systems for DNA analysis of genome rearrangements that cause monogenic hereditary diseases and hereditary predisposition to the development of the most socially important human diseases popup.stage_title Head Livshits Ludmila Avramovna, Registration Date 25-04-2012 Organization Institute of Molecular Biology and Genetics of NASU popup.description2 The goal of the study during current stage is to create the bank of DNA samples from patients with cystic fibrosis, spinal muscular atrophy, Duchenne and Becker muscular dystrophy, motor and sensory polyneuropathy, and to develop the test system prototype for the detection of the mutant variants in the CFTR gene. Unique collection of the DNA samples from patients and their family members with identified mutations in the following genes: CFTR, SMN, РМР22, Cx32, DMD was created. This collection has 63 samples and also includes 25 DNA samples of individuals with different allelic variants of STR- and VNTR- polymorphic loci of chromosomal regions 7q31. 1, 5q13, 17р11.2 and intronic regions of the DMD gene. The prororype of the test system for the analysis of mutant variants in exons 4, 20 CFTR gene, using denaturing gradient gel electrophoresis (DGGE), was developed. Using this assay the following mutations were identified : 621 G> A (exon 4 CFTR gene), W1282X and P1290P (exon 20 CFTR gene). Product Description popup.authors Грищенко Наталія Володимирівна Кравченко Сергій Афанасійович Пампуха Володимир Миколайович Соловйов Олександр Олександрович Татарський Павло Феліксович Фесай Ольга Анатоліївна Чернушин Сергій Юрійович popup.nrat_date 2020-04-02 Close