title: [Investigation of detoxification polymorphisms genes, methylenetetrahydrofolate-reductase (MTHFR) and P53 in the radiosensitive human cells].
abstract: The genes of detoxication, MTHFR and p53 were studied in Down' and Ehlers-Danlos syndrome cells. The frequency GSTM1(0/0) genotype in Down syndrome patients was in 1.5 times higher than in control cells (p < 0.069). Opposite the frequency GSTM1(0/0) genotype in Ehlers-Danlos syndrome was 23.3% 2 times lower than in control cells (p < 0.034). This indication was in 2 times lower in women cells than in men cells and in 3 times lower than in control cells (p < 0.026). The mutations of p53 gene (7th exon) were detected in 4 from 11 Down patients (36.7%; in 2 cases af women and men), in Ehlers-Danlos patients--in 5 cases and only in men (29.4% among all the observed patients). The observations 24 healthy donors weren't revealed any mutations (p < 0.013-0.001). The hypothesis about the connection between gene polymorphisms which take a part in genome stability and radiosensitivity in Down and Ehlers-Danlos patients was developed.
authors.forename: Zh M
authors.initials: ZhM
authors.lastname: Shagirova
authors.forename: L N
authors.initials: LN
authors.lastname: Ushenkova
authors.forename: V F
authors.initials: VF
authors.lastname: Mikhaĭlov
authors.forename: L A
authors.initials: LA
authors.lastname: Kurbatova
authors.forename: N S
authors.initials: NS
authors.lastname: Kuz'mina
authors.forename: A N
authors.initials: AN
authors.lastname: Semiachkina
authors.forename: I M
authors.initials: IM
authors.lastname: Vasil'eva
authors.forename: V K
authors.initials: VK
authors.lastname: Mazurik
authors.forename: G D
authors.initials: GD
authors.lastname: Zasukhina
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004314:Down Syndrome / Q000235:genetics*; D004535:Ehlers-Danlos Syndrome / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D011110:Polymorphism, Genetic; D011836:Radiation Tolerance / Q000235:genetics*; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
chemical_list: D016159:Tumor Suppressor Protein p53; D042965:Methylenetetrahydrofolate Reductase (NADPH2)