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Martina Bašić, Ana Butorac, Irena Landeka Jurčević and Višnja Bačun-Družina

, Meyre D. Genomic insights into early-onset obesity. Genome Med 2010;2:36 [displayed 23 June 2010]. Available at http://genomemedicine.com/content/2/6/36 31. Choquet H, Meyre D. Molecular Basis of Obesity: Current Status and Future Prospects. Curr Genomics 2011;12:154-68. 32. Choquet H, Meyre D. Genetics of Obesity: What have we Learned? Curr Genomics 2011;12:169-79. 33. Su LJ, Mahabir S, Ellison GL, McGuinn LA, Reid BC. Epigenetic contributions to the relationship between cancer and dietary intake of nutrients, bioactive

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I Dimova, R Vazharova, D Nikolova, R Tincheva, D Nesheva, Y Uzunova and D Toncheva

prospective of human cytogenetics: from microscope to microarray. Clin Biochem 2004; 37(6): 439-446. Pollack JR, Perou CM, Alizadeh AA, Eisen MB, Pergamenschikov A, Williams CF, Jeffrey SS, Botstein D, Brown PO. Genome-wide analysis of DNA copy-number changes using cDNA microarrays. Nat Genet 1999; 23(1): 41-46. Bejjani BA, Shaffer LG. Application of array-based comparative genomic hybridization to clinical diagnostics. J Mol Diagn 2006; 8(5): 528-533. Albertson DG, Pinkel D. Genomic

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Marija Gamulin, Jelena Katić, Mirta Milić, Mislav Grgić and Aleksandra Fučić

. Mutat Res 1995;331:47-54. Storchova Z, Pellman D. From polyploidy to aneuploidy, genome instability and cancer. Nat Rev Mol Cell Biol 2004;5:45-54.

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Ranko Stojković, Aleksandra Fucic, Dušica Ivanković, Zoran Jukić, Petra Radulović, Josip Grah, Nenad Kovačević, Lovro Barišić and Božo Krušlin

References 1. Singh VK, Romaine PL, Newman VL. Biologics as countermeasures for acute radiation syndrome: where are we now? Expert Opin Biol Ther 2015;15:465-71. doi: 10.1517/14712598.2015.986453 2. United Nations Scientific Committee on the Effects of Atomic Radiation (UNSCEAR). Sources, Effects and Risks of Ionizing Radiation. Report to the General Assembly with Scientific Annexes. Vol. II Scientific Annex B New York: United Nations; 2013. 3. Kovalchuk O, Ponton A, Filkowski J, Kovalchuk I. Dissimilar genome

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Mirta Milić

Genomska nestabilnost i test osjetljivosti na bleomicin

Procjena individualne osjetljivosti na mutagene često je dio istraživanja u epidemiološkim studijama koje prate pojavnost zloćudnih bolesti u populacijama. Posljedica djelovanja mutagena u genomu izloženih osoba jest nastanak osoba jest nastanak određene, manje ili veće, količine oštećenja, uvjetovane individualnim razlikama u osjetljivosti. Viša razina takve genomske nestabilnosti znači opasnost (rizik) od razvoja zloćudnih bolesti. Interindividualne razlike u odgovoru na mutagene obično se povezuju i s promijenjenom (većinom smanjenom) sposobnosti (kapacitetom) za popravak DNA. Citogenetičke studije su pokazale da je genom tumorskih stanica nestabilniji od normalnih, a time i skloniji akumuliranju oštećenja, bilo da je nestabilnost uzrokovana nasljeđem, izloženošću ili kombinacijom tih dvaju učinaka. U oboljelih ispitanika utvrđena je povećana učestalost kromatidnih i kromosomskih aberacija naspram normalne populacije te sklonost razvoju određenih vrsta neoplazija. U praćenju povezanosti promijenjenog odgovora i pojavnosti tumora služe nam različiti biomarkeri. Kao indirektni pokazatelji uspješnosti popravka DNA često se rabe testovi osjetljivosti na mutagene u kulturama limfocita periferne krvi. Jedan od takvih testova je i bleomicinski test. Radiomimetik i citostatik, a po strukturi glikopeptid, bleomicin se u stanici prevodi u aktivni oblik sposoban cijepati molekulu DNA što uzrokuje brojne jednolančane i dvolančane lomove. Kao jednostavna i jeftina metoda, zasniva se na utvrđivanju ukupnog broja jednolančanih lomova u kromosomima limfocita uzgajanih u staničnoj kulturi koji su u uvjetima in vitro tijekom kasne G2-faze staničnog ciklusa bili izloženi bleomicinu. Ovaj revijalni rad daje pregled utjecaja raznih faktora na rezultate samog testa i pokazuje njegovu široku primjenu u proučavanju genomske nestabilnosti koju najčešće uzrokuje kombinacija raznih faktora.

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I. Domarkienė, A. Pranculis, Š. Germanas, A. Jakaitienė, D. Vitkus, V. Dženkevičiūtė, Za. Kučinskienė and V. Kučinskas

. Lorenzo C, Serrano-Rios M, Martinez-Larrad MT, Gonzalez-Sanchez JL, Seclen S, Villena A, et al. Geographic variations of the International Diabetes Federation and the National Cholesterol Education Program-Adult Treatment Panel III definitions of the metabolic syndrome in nondiabetic subjects. Diabetes Care. 2006; 29(3): 685-691. 6. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, et al. PLINK: a tool set for whole-genome association and populationbased linkage analyses. Am J Hum Genet. 2007; 81(3): 559-575. 7. Spielman

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B. Rukova, R. Staneva, S. Hadjidekova, G. Stamenov, V. Milanova and D. Toncheva

-2883. 9. Jones PA. Functions of DNA methylation: Islands, start sites, gene bodies and beyond. Nat Rev Genet. 2012; 13(7): 484-492. 10. Moore LD, Le T, Fan G. DNA Methylation and its basic function. Neuropsychopharmacology. 2013; 38(1): 23-38. 11. Rakyan VK, Down TA, Thorne NP, Flicek P, Kulesha E, Graf S, et al. An integrated resource for genome-wide identification and analysis of human tissue-specific differentially methylated regions (tDMRs). Genome Res. 2008; 18(9): 1518-1529. 12. Connor CM, Akbarian S. DNA methylation

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S Hadjidekova and D Toncheva

(11): 719-727. Bar-Shira A, Rosner G, Rosner S, Goldstein M, Urtreger AO. Array-based comparative genome hybridization in clinical genetics. Pediatr Res 2006; 60(3): 353-358. Thienpont B, Mertens L, Ravel T, EyskensB, Boshoff D, Maas N, Fryns JP, Gewillig M, Vermeesch JR, Devriendt K. Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients. Eur Heart J 2007; 28(22): 2778-2784. Menten B, Maas N, Thienpont B, Buysse K

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Ding Y, Xia B-H, Teng Y-S, Zhuo G-C and Leng J-H

performed in the Hangzhou area of Zhejiang Province, People’s Republic of China (PRC). In this report, we describe a Han Chinese family with maternally-inherited AINHL. Sequence analysis of the mitochondrial genome showed the presence of C1494T and G7444A pathogenic variants. Materials and methods Subjects As a part of genetic screening program for hearing loss, a three-generation Han Chinese family (as shown in Figure 1 ) was found at the Department of Otolaryngology, Hangzhou First People’s Hospital, Zhejiang Province, PRC. Informed consent was obtained from

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E Betcheva, C Betchev and D Toncheva

: access to genetic information. Eur J Pediatr 2000; 159(Suppl 3): S183-185. Shi MM. Enabling large-scale pharmacogenetic studies by high-throughput mutation detection and genotyping technologies. Clin Chem 2001; 47(2): 164-172. Wang X, Tomso DJ, Chorley BN, Cho HY, Cheung VG, Kleeberger SR, Bell DA. Identification of polymorphic antioxidant response elements in the human genome. Hum Mol Genet 2007; 16(10): 1188-1200. Lee JE. High-throughput genotyping. Forum Nutr 2007; 60: 97