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W pracy przedstawiono analizę częstości występowania wirusa TT w surowicy krwi chorych z przewlekłym zapaleniem wątroby typu B, C i o nieustalonej etiologii, a także w kontrolnej grupie krwiodawców. Dodatkowo zbadano częstość infekcji TTV u chorych szczególnie narażonych na zakażenia wirusami przenoszonymi drogą parenteralną. Dokonano także, w wybranych przypadkach, analizy sekwencji nukleotydów w genomie wirusa TT.
Among of the potential agents causing multiple sclerosis MSRV virus (multiple sclerosis-associated retrovirus) is often taken into consideration. Aims of the study were (1) an assessment of MSRV potential role in MS, and (2) test of genome instability in MS patients. The material was peripheral blood lymphocytes from 92 patients with MS, 12 patients with myasthenia and 20 healthy persons. The FISH studies with labeled PCR products of pol gag and env MSRV genes in nuclei, chromosomes and chromatin fi - bers were done. Classical cytogenetic techniques were introduced into karyotypes and micronuclei analyses. MSRV pol, gag and env sequences were found in both MS patients and controls. The copy number of MSRV pol sequence was signifi cantly greater in MS patients (6ñ24 copies on nucleus) than in myasthenia (4ñ5 copies) and normal individuals (3ñ6 copies). MSRV gag sequence was found in a range of 5ñ20, 4ñ5, and 2ñ4 copies in MS patients, patients with myasthenia and healthy donors, respectively. MSRV env was found in a range of 6ñ22, 4ñ5, and 2ñ4 copies in MS patients, patients with myasthenia and healthy donors, respectively. Moreover, the number of spontaneous micronuclei was signifi cantly greater in MS patients compared to control. In patients with MS diversity of chromosome aberrations was observed. In conclusion, evident difference in MSRV pol, gag and env copy number between MS patients and control suggests that MSRV may play some role in the etiology of multiple sclerosis (latent viral infection). The presence of chromosome aberrations and high amount of micronuclei in MS patients shows that the instability in MS genome often occurs. Scientifi c work has been supported by Ministry of Scientifi c Research and Information Technology funds (Grant No 2 PO5A 139 28).
The purpose of our study was to establish the frequency and distribution of the four most common BRCA1 mutations in Polish general population and in a series of breast cancer patients. Analysis of the population frequency of 5382insC (c.5266dupC), 300T >G (p.181T >G), 185delAG (c.68_69delAG) and 3819del5 (c.3700_3704del5) mutations of the BRCA1 gene were performed on a group of respectively 16,849, 13,462, 12,485 and 3923 anonymous samples collected at birth in seven Polish provinces. The patient group consisted of 1845 consecutive female breast cancer cases. The most frequent BRCA1 mutation in the general population was 5382insC found in 29 out of 16,849 samples (0.17%). 300T >G and 3819del5 mutations were found in respectively 11 of 13,462 (0.08%) and four of 3923 (0.1%) samples. The population prevalence for combined Polish founder 5382insC and 300T >G mutations was 0.25% (1/400). The frequencies of 5382insC and 300T >G carriers among consecutive breast cancer cases were, respectively, 1.9% (35/1845) and 1.2% (18/1486). Comparing these data with the population frequency, we calculated the relative risk of breast cancer for 5382insC mutation at OR = 17 and for 300T >G mutation at OR = 26. Our results, based on large population studies, show high frequencies of founder 5382insC and 300T >G BRCA1 mutations in Polish general population. Carriage of one of these mutations is connected with a very high relative risk of breast cancer.
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