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Information × Registration Number 0212U008715, 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 12-02-2013 Organization Institute of Molecular Biology and Genetics of NASU popup.description2 The goal of the project is to develop a prototype test system for the analysis of gene copy number PMP22 (deletions / duplications) in patients with demyelinating motor-sensory polyneuropathy (CMT1) and major mutations in the CYP21A2 gene in patients with adrenogenital syndrome (AGS), which are suitable for pre- and postnatal diagnosis of various types of diseases, as well as the establishment of an asymptomatic heterozygous carrier in high-risk families of AGS (autosomal recessive inheritance) and early diagnosis presymptomatic CMT1 (autosomal dominant inheritance). Were made design and synthesis of specific primers to amplify the in vitro study of gene sequences RMR22 (third exon) and the reference gene ALB (exon 12) and worked out the optimal conditions of quantitative real-time PCR. Were made design and synthesis of specific primers and worked out optimal PCR conditions for the analysis of mutations in gene CYP21A2: extensive deletions of the gene CYP21A2, mutations P30L, I2G, I172N, E6cluster, R356W - by allele-specific PCR and mutation V281L, Q318X - by analysis of restriction length polymorphism. Developed method was tested on reference DNA samples with the relevant mutations, providing independent analysis of alternative methods. On the basis of the developed techniques developed prototypes of test systems for molecular diagnosis of these pathologies that do not require expensive equipment and can be implemented in specialized medical institutions. Keywords: prototype test system, hereditary polyneuropathy Charcot-Marie-Tooth, adrenogenetalny syndrome, DNA diagnostics, PCR, mutation, deletion, duplication, quantitative real-time PCR. Product Description popup.authors Грищенко Наталія Володимирівна Кравченко Сергій Афанасійович Пампуха Володимир Миколайович Перевера Марія Павлівна Содоль Раїса Іванівна Соловйов Олександр Олександрович Татарський Павло Феліксович Чернушин Сергій Юрійович popup.nrat_date 2020-04-02 Close