title: [Gene polymorphisms in patients with Down's syndrome].
abstract: Polymorphisms of glutation-S-transferase (GSTM1, GSTT1 GSTP1) and methylentetrahydrofolate reductase (MTHFR) genes have been studied in DNA from blood lymphocytes of 18 patients with Down's syndrome and 61 controls. Frequencies of normal alleles of GST genotypes were lower in patients as compared to the controls. A DNA analysis of 11 patients and 17 controls revealed the presence of mutations in region 246-250 of exon 7 of the p53 gene in 4 patients. Mutations were not found in the control group. Due to the small sample size, the results of this study should be interpreted with caution and need replication in larger studies.
authors.forename: N S
authors.initials: NS
authors.lastname: Kuz'mina
authors.forename: L I
authors.initials: LI
authors.lastname: Ushenkova
authors.forename: Zh M
authors.initials: ZhM
authors.lastname: Shagirova
authors.forename: G O
authors.initials: GO
authors.lastname: Sheĭkhaev
authors.forename: V F
authors.initials: VF
authors.lastname: Mikhaĭlov
authors.forename: L A
authors.initials: LA
authors.lastname: Kurbatova
authors.forename: V K
authors.initials: VK
authors.lastname: Mazurik
authors.forename: A V
authors.initials: AV
authors.lastname: Rubanovich
authors.forename: G D
authors.initials: GD
authors.lastname: Zasukhina
mesh_terms: D000328:Adult; D000483:Alleles; D002648:Child; D004247:DNA / Q000235:genetics*; D004314:Down Syndrome / Q000201:enzymology / Q000235:genetics*; D005787:Gene Frequency; D005838:Genotype; D005982:Glutathione Transferase / Q000097:blood / Q000235:genetics*; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000097:blood / Q000235:genetics*; D009154:Mutation; D011110:Polymorphism, Genetic
chemical_list: D004247:DNA; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D005982:Glutathione Transferase