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Shagirova Zh. M. Kurbatova L. A. Shulenina L. V. Semyachkina A. N. Mikhailov V. F. Zasukhina G. D. 《Biophysics》2011,56(5):950-954
Codon 312 and 751 polymorphisms of XPD gene and codon 399 polymorphism of XRCC1 gene of peripheral blood lymphocytes in patients with Down syndrome (DS) (46 individuals) and Ehlers-Danlo syndrome (EDS)
(47 individuals) and in a group of healthy donors (control) (40 individuals) were studied. The frequency of XPD genotype (G312G) coding for the most effectively functioning form of XPD protein was lower in patients with DS (26%) than
in the group of healthy donors (42.5%) (p = 0.035), whereas no significant differences with the control were revealed for this codon in patients with EDS. No patients
with XPD genotype (C751C) (p = 0.036) were revealed in the group of EDS patients, while this genotype was found in 16% of the group of healthy donors
and in 17% of patients with DS. A trend of XRCC1 genotype frequency reduction (A399A) (p = 0.085) in EDS patients (3.9%) compared with the group of healthy donors (13.5%) and DS patients (13.3%) was obtained. These
data showed that polymorphisms of the excision repair genes under study were accompanied by an elevated individual radiosensitivity
in patients with DS. Genes investigated (their polymorphic variants) did not participate in the mechanisms for radiosensitive
phenotype formation in EDS patients. 相似文献
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I. M. Vasilyeva Zh. M. Shagirova T. A. Sinelshikova D. A. Mavletova N. S. Kuzmina G. D. Zasukhina 《Russian Journal of Genetics》2009,45(6):659-662
Cells of a diploid line obtained from embryos with the Down’s syndrome, known to be unable to repair gamma-induced DNA damage, were treated with natural (garlic extract, retinol) and synthetic (crown compound) antimutagens and with adapting factors (heat shock, low CdCl2 concentrations, 10?8 M). The protective effect was evaluated by registering DNA breaks and cell survival, and the protection coefficients were calculated. The most effective results were obtained with the use of the garlic extract and retinol. No protection of the DNA structure was observed when cells were treated with low concentrations of cadmium chloride and then with high concentrations, i. e., no adaptive response (AR) was formed under these conditions. The spectrum of proteins in treated and control cells as well as detoxication genes (GSTM1, GSTT1, CYP1A1) were determined. 相似文献
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Shagirova ZhM Kurbatova LA Shulenina LV Semiachkina AN Mikhaĭlov VF Zasukhina GD 《Radiatsionnaia biologiia, radioecologiia / Rossi?skaia akademiia nauk》2011,51(4):405-410
Codon 312 and 751 polymorphisms ofXPD gene and codon 399 polymorphism of XRCC1 gene of peripheral blood lymphocytes in patients with Down syndrome (DS) (46 individuals), Ehlers-Danlo syndrome (EDS) (47 individuals) and in a group of healthy donors (control) (40 individuals) have been studied. Frequency of XPD genotype (G312G) coding for the most effectively functioning form of XPD protein was lower in patients with DS (26%) than in a group of healthy donors (42.5%) (p = 0.035), whereas no significant differences with the control were revealed for this codon in patients with EDS. No patients with XPD genotype (C751C) (p = 0.036) were revealed in a group of EDS patients, while this genotype was found in 16% of a group of healthy donors and in 17% of patients with DS. The trend of XRCC1 genotype frequency reduction (A399A) (p = 0.085) in EDS patients (3.9%) compared with the group of healthy donors (13.5%) and DS patients (13.3%) has been obtained. These data show that polymorphisms of the excision repair genes under study are accompanied by an elevated individual radio sensitivity in patients with DS. Genes investigated (their polymorphic variants) did not participate in the mechanisms for radio sensitive phenotype formation in EDS patients. 相似文献
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