| Autor: |
Shagirova ZhM, Ushenkova LN, Mikhaĭlov VF, Kurbatova LA, Kuz'mina NS, Semiachkina AN, Vasil'eva IM, Mazurik VK, Zasukhina GD |
| Jazyk: |
ruština |
| Zdroj: |
Radiatsionnaia biologiia, radioecologiia [Radiats Biol Radioecol] 2010 Mar-Apr; Vol. 50 (2), pp. 128-33. |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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