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Information × Registration Number 0210U003432, 0107U008764 , R & D reports Title To assess of the interrelationship of marker genes polymorphysms and diseases developments (oncology, osteoporosis, diabetes) and their complications popup.stage_title Head Butenko Gennadij M., Registration Date 08-02-2010 Organization Institute of genetic and regenerative medicine Acad.Med.Sci. of Ukraine popup.description2 Report on research: 89p. 4 fig., 10 table, 12 diagrams., 10 app, 159 references. Object of research - genetic markers of risk of pathological conditions. The target of work - based on the study of polymorphism marker genes to develop a detection system susceptibility to developing the most common multifactorial diseases for early diagnosis of pathological conditions and prevent complications. Methods of research - molecular genetic, cytogenetic, biochemical. Results. For the first time in Ukraine, studied complex polymorphic genetic markers associated with the occurrence of breast cancer in young women. Proved the availability of non-functional allele Communications GSTT1 and GSTM1 genes with risk of breast cancer in women aged 18 to 40 years. Shown that the association deletsiynyh options GSTM1 and GSTT1 genes with mutation 5382insC in the BRCA1 gene and / or polymorphic variants of TP53 gene associated with risk of breast cancer in young women. For the first time in Ukraine, studied the frequency of polymorphic variants of CYP2D6 * 4 gene, MDR1 (C3435T), TNF-a (G308A), TP53 (4 exon and 6 intron), CCR5 (del32) in women with breast cancer and a comparison group. The frequency of polymorphic gene variant CYP2D6 * 4 / * 4 - "poor metabolizer - in women with breast cancer, was 6.9%; heterozyhot constituted 33.3% of the examined. TT genotype frequency of the gene MDR1 (low expression of P-glycoprotein) in the study of C3435T polymorphism in women with breast cancer, was 24%, heterozyhot found 48%. In the course of patients with complications of diabetes mellitus type I (vascular lesions) in the study of I / D polymorphism of ACE gene genetic variant DD (unfavorable) was found in 60% of patients, the genetic variant ID (heterozyhot) - 40% of patients, variant II (protektive ) was found, compared with patients with uncomplicated flow type I diabetes. The method of detection among patients with breast cancer entities that require individualized treatment selection, by identifying molecular genetic markers, which is different in that as an additional diagnostic criterion selected 5382 insC identify mutations in the gene BRCA1. Gene, mutation, polymorphism, pharmacogenetic, breast cancer, diabetes, chromosome, lysosomic storage disease. Product Description popup.authors Євсеєнкова Олена Генадіївна Гойко Ольга Василівна Захарцева Любов Михайлівна Канюка Вероніка Юріївна Ольхович Наталія Вікторівна Подольська Світлана Володимирівна Россоха Зоя Іванівна Шейко Лариса Павлівна popup.nrat_date 2020-04-02 Close