Search academic texts

Information × Registration Number 0212U007057, 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 project is to develop a prototype test system for the differential amplification of the exon 7 sequences in the studied genes (SMN1 and SMN2) by quantitative PCR had been carried out/ Albumin gene (ALB) was chosen as a reference gene. It is a "household" gene and always present in genome in two copies. Quality control of the copy number analysis in exon 7 SMN1 gene was performed among 61 control DNA samples: 36 DNA samples with the heterozygous deletion of the exon 7 SMN1, and 25 DNA samples with two copies of the SMN1 gene, which were previously analyzed using another assays. There was no overlapping of normalized copy number values of the exon 7 SMN1 gene in the group of heterozygous carriers and normal individuals. Similarly, quality control analysis were carried out for the copy number detection in the SMN2 gene in the DNA samples with heterozygous deletion of exon 7 SMN2 gene (n=5), as well as in the DNA samples from individuals with 2 copies of this gene(n=10). There was no overlapping of normalized copy number values found for both groups. According to the results of the study, methods for the determination of the copy number in the SMN genes using quantitative real-time PCR were developed. Product Description popup.authors Грищенко Наталія Володимирівна Кравченко Сергій Афанасійович Лівшиць Ганна Борисівна Пампуха Володимир Миколайович Перевера Марія Павлівна Содоль Раїса Іванівна Соловйов Олександр Олександрович Татарський Павло Феліксович Фесай Ольга Анатоліївна Чернушин Сергій Юрійович popup.nrat_date 2020-04-02 Close