Zbornik - Društvo genetičara Srbije

More documents

Recommendations

Info

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.
Page 1 and 2:
DRUŠTVO GENETIČARA SRBIJE SERBIAN
Page 3 and 4:
III KONGRES GENETIÈARA SRBIJE Subo
Page 5 and 6:
Uvodno predavanje Opening lecture
Page 7 and 8:
I tematska oblast / I topic: Geneti
Page 9:
I-Uvo-2 ZBORNIK ABSTRAKATA III KONG
Page 12 and 13:
12 ZBORNIK ABSTRAKATA III KONGRESA
Page 14 and 15:
Page 16 and 17:
Page 18 and 19:
Page 20 and 21:
Page 22 and 23:
Page 24 and 25:
Page 26 and 27:
Page 28 and 29:
Page 30 and 31:
Page 32 and 33:
Page 34 and 35:
Page 36 and 37:
Page 38 and 39:
Page 40 and 41:
Page 43 and 44:
II tematska oblast / II topic: Stru
Page 45 and 46:
II-Uvo-2 ZBORNIK ABSTRAKATA III KON
Page 47 and 48:
Page 49 and 50:
II-Usm-2 ZBORNIK ABSTRAKATA III KON
Page 51 and 52:
Page 53 and 54:
Page 55 and 56:
Page 57 and 58:
II-Pos-2 ZBORNIK ABSTRAKATA III KON
Page 59 and 60:
Page 61 and 62:
Page 63 and 64:
III tematska oblast / III topic: Ge
Page 65:
III-Uvo-2 ZBORNIK ABSTRAKATA III KO
Page 68 and 69:
Page 70 and 71:
Page 72 and 73:
Page 74 and 75:
Page 76 and 77:
Page 78 and 79:
Page 80 and 81:
Page 82 and 83:
Page 84 and 85:
Page 86 and 87:
Page 89 and 90:
IV tematska oblast / IV topic: Ople
Page 91 and 92:
IV-Usm-2 ZBORNIK ABSTRAKATA III KON
Page 93 and 94:
Page 95 and 96:
Page 97 and 98:
Page 99 and 100:
IV-Usm-10 ZBORNIK ABSTRAKATA III KO
Page 101 and 102:
Page 103 and 104:
Page 105 and 106:
Page 107 and 108:
Page 109 and 110:
Page 111 and 112:
Page 113 and 114:
Page 115 and 116:
Page 117 and 118:
IV tematska oblast / IV topic: Ople
Page 119 and 120:
IV-Pos-2 ZBORNIK ABSTRAKATA III KON
Page 121 and 122:
Page 123 and 124:
Page 125 and 126:
Page 127 and 128:
IV-Pos-10 ZBORNIK ABSTRAKATA III KO
Page 129 and 130:
Page 131 and 132:
Page 133 and 134:
Page 135 and 136:
Page 137 and 138:
Page 139 and 140:
Page 141 and 142:
Page 143 and 144:
Page 145 and 146:
Page 147 and 148:
Page 149 and 150:
Page 151 and 152:
Page 153 and 154:
Page 155 and 156:
Page 157 and 158:
Page 159 and 160:
Page 161 and 162:
Page 163 and 164:
Page 165 and 166:
Page 167 and 168:
Page 169 and 170:
Page 171 and 172:
Page 173 and 174: IV-Pos-56 ZBORNIK ABSTRAKATA III KO
Page 179 and 180: V tematska oblast / V topic: Geneti
Page 181: V-Uvo-2 ZBORNIK ABSTRAKATA III KONG
Page 184 and 185: 184 ZBORNIK ABSTRAKATA III KONGRESA
Page 203 and 204: V tematska oblast / V topic: Geneti
Page 205 and 206: V-Pos-2 ZBORNIK ABSTRAKATA III KONG
Page 213 and 214: V-Pos-10 ZBORNIK ABSTRAKATA III KON
Page 223: V-Pos-20 ZBORNIK ABSTRAKATA III KON
Page 227 and 228: ZAVRŠNO PREDAVANJE CLOSING LECTURE
Page 229 and 230: A Aksentijeviæ I. 194 Aleksiæ J.
Page 231 and 232: Kovaèev L. 73, 90, 125, 140, 147 K
Page 233 and 234: Stanojeviæ B. 223 Stanojeviæ J. 2
show all

Zbornik - Društvo genetičara Srbije

You also want an ePaper? Increase the reach of your titles

Delete template?

Save as template?