Zbornik - Društvo genetičara Srbije

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224 ZBORNIK ABSTRAKATA III KONGRESA GENETIÈARA SRBIJE V-Pos-21 Subotica, 30. novembar - 4. decembar 2004. PROCENA GENOTOKSIÈNOG OŠTEÆENJA KOD RADNIKA PROFESIONALNO IZLOENIH NAFTINIM DERIVATIMA J. Mrðanoviæ, D. Jakimov, S. Turšijan i G. Bogdanoviæ Institut za onkologiju, Sremska Kamenica Cilj ovog istraivanja je da se proceni stepen genotoksiènog ošteæenja kod radnika koji su profesionalno izloeni isparenjima naftinih derivata i da se utvrdi uticaj pušenja kao kofaktora koji uèestvuje u ošteæenju genoma. Biomonitoring je izvršen na limfocitima periferne krvi radnika NIS-Rafinerije Novi Sad primenom testova mikronukleusa (MN) i razmene sestrinskih hromatida (SCE). Ispitivanjem je obuhvaæeno 30 radnika (13 pušaèa i 17 nepušaèa) i 15 kontrolnih osoba (7 pušaèa i 8 nepušaèa). Uèestalost SCE i MN kod radnika je bila poveæana u odnosu na kontrolnu grupu, dok je index proliferacije pokazivao niu vrednost. Pušaèi u grupi profesionalno izloenih radnika, imali su najveæu vrednost SCE u poreðenju sa radnicima nepušaèima kao i sa kontrolnom grupom. Pušaèi u grupi radnika imali su veæu vrednost MN od nepušaèa iz iste grupe, dok su u kontrolnoj grupi nepušaèi imali višu vrednost MN. Proliferacioni index je pokazivao najveæu vrednost u grupi kontrolnih nepušaèa, a najmanji u grupi nepušaèa radnika. Preliminarni rezultati ukazuju na porast genotoksiènog ošteæenja kod radnika koji su profesionalno izloeni isparenjima naftinih derivata. Pušenje kao kofaktor u genotoksiènom delovanju hemijskih agenasa doprinosi ošteæenju genoma. EVALUATION OF GENOTOXIC DAMAGES IN WORKERS PROFESSIONALLY EXPOSED TO OIL EVAPORATION The aim of this study was to estimate genotoxic damages in workers occupationally exposed to oil evaporation, and to evaluate the influence of smoking as confounding factor in genome damaging. Biomonitoring was performed on peripheral blood lymphocytes of the workers employed in NIS-Rafinerija Novi Sad using micronuclei analysis (MN) and sister chromatide exchanges (SCE). Thirty workers (13 smokers and 17 nonsmokers) and 15 control persons (7 smokers and 8 nonsmokers) were included in the study. Frequency of SCE and MN in workers was higher in comparison to control group, while proliferation index showed lower value. Smokers in the exposed group of workers had the highest values of SCE compared with workers-nonsmokers and control group. Smokers in group of workers showed higher incidence of MN compared to nonsmokers in the same group, while control-nonsmokers had the higher value of MN. Proliferation index was the highest in the group of control-nonsmokers and the lowest in the group of workers-nonsmokers. Preliminary results demonstrate the increased incidence of genotoxic damage in workers professionally exposed to oil evaporation. Smoking as cofactor in genotoxic effect of chemical agents contributes to genome damage.
V-Pos-22 ZBORNIK ABSTRAKATA III KONGRESA GENETIÈARA SRBIJE 225 Subotica, 30. novembar - 4. decembar 2004. REZULTATI OSMOGODIŠNJEG ISKUSTVA U DETEKCIJI MUTACIJA U GENU ZA CISTIÈNU FIBROZU U SRBIJI I CRNOJ GORI D. Radivojeviæ 1 , M. Ðurišiæ 1 , T. Laliæ 1 , M. Guæ-Šæekiæ 1 , P. Miniæ 2 , A. Sovtiæ 2 , Lj. Stojanov 3 i . Puzigaæa 4 1 2 Laboratorija za medicinsku genetiku, Odeljenje za pulmologiju, 3 4 Odeljenje za metabolizam i klinièku genetiku, Ginekološka klinika, Institut za zdravstvenu zaštitu majke i deteta «Dr Vukan Èupiæ», Beograd Šest mutacija (F508del, G542X, 621+1G>T, 2789+5G>A, R1070Q and S466X) su bile zastupljene kod 79.89% CF alela, od kojih je najveæu uèestalost imala F508del mutacija (72.35%). Drugih 12 mutacija (R334W, 2184insA, I507del, 1525-1G>A, E585X, R75X, M1I, 457TAT>G, 574delA, 2723delTT, A120T and 2907delTT) je naðeno kod 3.36% CF alela. Kod jednog bolesnika je identifikovana nova mutacija (2723delTT). Korišæenjem pomenutih metoda, ukupno je detektovano 18 razlèitih mutacija koje su bile zastupljene kod 82.41% CF alela. Analiza haplotipa je uraðena kod 23 porodice kod kojih su jedan ili oba CF alela ostala neidentifikovana. Analiza je uraðena za 6 dialelnih polimorfizama i 1 tetranukleotidne ponovke (XV2C-KM19-MP6D9-J44-IVS6a(GATT)-M470V-T854T), na 102 CF i 54 normalna hromozoma. Haplotip 1-2-2-1-6-1-1 je bio najèešæe vezan za F508del mutaciju (tzv. linkage disequilibrium), dok su normalni hromozomi uglavnom bili vezani za 1-1-2-1-6-1-2 haplotip. Ovi rezultati ukazuju da je molekularna osnova cistiène fibroze u Srbiji i Crnoj Gori dosta heterogena. S obzirom da je u toku ove studije identifikovano vise od 80% CF alela, dobijeni podaci se mogu iskoristiti za pravljenje strategije o moguænostima skrininga u našoj zemlji i pruanje odgovarajuæeg genetièkog saveta visoko riziènim porodicama. RESULTS OF EIGHT YEARS EXPERIENCE IN CYSTIC FIBROSIS MUTATION TESTING IN SERBIA AND MONTENEGRO Six different mutations (F508del, G542X, 621+1G>T, 2789+5G>A, R1070Q and S466X) accounted for 79.89% of CF alleles, with F508del mutation showing a frequency of 72.35%. Another 12 mutations (R334W, 2184insA, I507del, 1525-1G>A, E585X, R75X, M1I, 457TAT>G, 574delA, 2723delTT, A120T and 2907delTT), covered an additional 3.36%. A novel mutation (2723delTT) was found in one CF patient (F508del/2723delTT). Thus, a total of 18 mutations cover 82.41% of CF alleles. Haplotype analysis was done in 23 families where one or both CF alleles remain uncharacterized. Analysis was done for 6 diallelic sites and one tetranucleotide repeat (XV2C-KM19-MP6D9-J44-IVS6a(GATT)-M470V-T854T) on 102 CF and 54 normal chromosomes. Strong linkage disequilibrium was observed for F508del mutation and one haplotype (1-2-2-1-6-1-1), while normal chromosomes mostly were associated with another one (1-1-2-1-6-1-2). These results imply that the molecular basis of cystic fibrosis in Serbia and Montenegro is heterogeneous. Since we detected more then 80% of CFTR alleles, results could be used for making strategy for future screening and appropriate genetic counseling programs in our country.
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DRUŠTVO GENETIČARA SRBIJE SERBIAN
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Zbornik - Društvo genetičara Srbije

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