Wyniki wyszukiwania

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Wystepowanie wirusa TT u chorych z zapaleniem watroby typu B, C i o nieustalonej etiologii

100%

Liwen I., Januszkiewicz-Lewandowska D., Rembowska J., Pernak M., Nowicka-Kujawska K., Nowak J.

Medycyna Doświadczalna i Mikrobiologia

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2002

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tom 54

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nr 2

151-155

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.

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Cytogenetic analysis of multiple sclerosis-associated retrovirus sequences (MSRV), TCRB genes and karyotypes in patients with multiple sclerosis (MS)

100%

Zawada M., Liwen I., Januszkiewicz D., Nowicka K., Rembowska J., Wender M., Nowak J.

Acta Neurobiologiae Experimentalis

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2011

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tom 71

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nr 1

Introduction: The scientists look for etiopatogenic factors of multiple sclerosis among viruses and bacteria. Genetic and immunologic agents are being taken into consideration. It is more than likely that there are numerous genes that take part in a development of the disease. The influence of various factors at the same time should be considered on account of possible multifactorial etiology of the disease. Aim and material: The aim of the studies was to analyse of MSRV pol, gag, env sequences, TCRB genes and karyotypes in patients with multiple sclerosis. The experimental material was peripheral blood lymphocytes from 130 MS patients and 50 healthy individuals. Methods: Classical (GTG) and molecular cytogenetic techniques (FISH) were used in the experiments. Results: 1) MSRV pol, gag and env sequences were found in both MS patients and controls. 2) The copy number of MSRV sequences was significantly greater in MS patients than in normal individuals. 3) The number of spontaneous micronuclei was significantly greater in MS patients compared to control. 4) Various chromosomal aberrations including translocations between chromosomes 7 and 14 were observed in patients with MS. 5) Translocation of constant and variable TCRB regions, deletion of constant TCRB region at 7 chromosome, duplication of constant TCRB region at chromosome 10, amplification of constant and variable TCRB regions in MS patients with aberrant chromosomes 7 and 14 were also found. Conclusions: 1) 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). 2) The presence of chromosome aberrations and high amount of micronuclei in MS patients shows that the instability in MS genome often occurs.

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The possible participation of MSR virus in etiology of multiple sclerosis

84%

Zawada M., Pernak M., Liwen L., Januszkiewicz-Lewandowska D., Nowicka K., Rembowska J., Jaworska-Kubica B., Hertmanowska H., Wender M., Nowak J.

Acta Neurobiologiae Experimentalis

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2006

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tom 66

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nr 4

4

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Limited pattern of TCR delta chain gene rearrangement on the RNA level in multiple sclerosis

84%

Nowak J., Januszkiewicz D., Pernak M., Hertmanowska H., Nowicka-Kujawska K., Rembowska J., Lewandowski K., Nowak T., Wender M.

Journal of Applied Genetics

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2001

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tom 42

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nr 4

5

Prevalence of the most frequent BRCA1 mutations in Polish population

52%

Brozek I., Cybulska C., Ratajska M., Piatkowska M., Kluska A., Balabas A., Dabrowska M., Nowakowska D., Niwinska A., Pamula-Pilat J., Tecza K., Pekala W., Rembowska J., Nowicka K., Mosor M., Januszkiewicz-Lewandowska D., Rachtan J., Grzybowska E., Nowak J., Steffen J., Limon J.

Journal of Applied Genetics

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2011

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tom 52

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nr 3

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.

Ograniczanie wyników

Wystepowanie wirusa TT u chorych z zapaleniem watroby typu B, C i o nieustalonej etiologii

Cytogenetic analysis of multiple sclerosis-associated retrovirus sequences (MSRV), TCRB genes and karyotypes in patients with multiple sclerosis (MS)

The possible participation of MSR virus in etiology of multiple sclerosis

Limited pattern of TCR delta chain gene rearrangement on the RNA level in multiple sclerosis

Prevalence of the most frequent BRCA1 mutations in Polish population