title: Polymorphism of detoxification genes and cell resistance to mutagens in patients with Ehlers-Danlos syndrome.
abstract: Study of polymorphism in 3 genes of the glutathione S-transferase family (GSTM1, GSTT1, and GSTP1) in children with Ehlers-Danlos syndrome whose cells were defective in repair of gamma-induced DNA damages revealed accumulation of GSTM1(+) genotypes compared to children of the control group. Generation of reactive oxygen species by neutrophils from patients with this syndrome was higher than in healthy donors. Our results indicate that glutathione S-transferase genes are involved in the resistance to mutagenic agents and demonstrate medical and genetic peculiarities of patients with Ehlers-Danlos syndrome.
authors.affiliation: N. I. Vavilov Institute of General Genetics, Russian Academy of Sciences.
authors.forename: N S
authors.initials: NS
authors.lastname: Kuz'mina
authors.forename: E V
authors.initials: EV
authors.lastname: Shipaeva
authors.forename: A N
authors.initials: AN
authors.lastname: Semyachkina
authors.forename: I M
authors.initials: IM
authors.lastname: Vasil'eva
authors.forename: L P
authors.initials: LP
authors.lastname: Kovalenko
authors.forename: A D
authors.initials: AD
authors.lastname: Durnev
authors.forename: G D
authors.initials: GD
authors.lastname: Zasukhina
mesh_terms: D000293:Adolescent; D019256:Cadmium Chloride / Q000494:pharmacology; D002648:Child; D004249:DNA Damage; D004351:Drug Resistance; D004535:Ehlers-Danlos Syndrome / Q000097:blood / Q000235:genetics*; D005260:Female; D005720:Gamma Rays; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D005982:Glutathione Transferase / Q000235:genetics; D006801:Humans; D008214:Lymphocytes / Q000187:drug effects / Q000378:metabolism* / Q000528:radiation effects; D008297:Male; D009153:Mutagens / Q000494:pharmacology*; D011110:Polymorphism, Genetic; D017382:Reactive Oxygen Species / Q000378:metabolism
chemical_list: D019256:Cadmium Chloride; D005982:Glutathione Transferase; D009153:Mutagens; D017382:Reactive Oxygen Species; C413545:glutathione S-transferase T1