DISTRIBUTION OF THE MAIN ABO BLOOD GROUP ALLELES IN CROATIAN POPULATION

Abstract

Raspodjela krvnih grupa ABO varira diljem svijeta u različitim populacijama, ali i unutar subpopulacija. Cilj rada je prikazati razdiobu 5 glavnih alela ABO sustava (O1, O2, A1, A2 i B) u hrvatskoj populaciji, te ih usporediti s drugim nacijama. Istraživanje je provedeno na 303 uzorka krvi, zdravih, nesrodnih dobrovoljnih davatelja krvi (123 žena, 180 muškaraca) u dobi od 18 do 65 godina. Metode: Nakon izolacije genomske DNA pomoću komercijalnih kolona (QIAamp DNA Blood Mini kit, Qiagen, Njemačka) ili na uređaju MagNA Pure Compact (Roche Diagnostics Corporation, SAD), određeni su genotipovi ABO pomoću metode PCR-SSP. Rezultati: Genotipizacijom je utvrđeno 12 genotipova. Najzastupljeniji genotip je O1O1 (37,2 %), pa slijede O1A1 (27,1 %), O1B (15,8 %), A1B (4,3 %), A1A1 (4,0 %), O1A2 (3,6 %), O1O2 (2,6 %), A1A2 (1,7 %), O2A1 (1,7 %), A2B (1,0 %), BB (0,7 %), O2O2 (0,3 %). Među ispitanicima nisu nađena tri rijetka ABO genotipa: A2A2, O2A2, O2B. Alelne frekvencije iznose: O1 – 0,62; O2 – 0,025; A1- 0,21; A2 – 0,035 i B – 0,11. Razdioba alela ABO u Hrvatskoj je usporediva s drugim europskim narodima. Zaključak: Rezultati genotipizacije ABO krvne grupe kod dobrovoljnih davatelja krvi, koji su reprezentativan uzorak hrvatske populacije, od temeljnog su značenja za istraživanja ABO sustava krvnih grupa kao genetičkog čimbenika rizika za neke bolesti, kao i za antropološka ispitivanja.The frequencies of gene polymorphisms of blood groups serve as markers for populations and races. Distribution of ABO blood groups varies among populations and subpopulations around the world. The aim of the study was to determine distribution of the 5 main alleles of ABO system among Croatian blood donors and compare them with other populations. Material and Methods: The study included 303 samples of healthy unrelated volunteer blood donors, 123 female and 180 male, aged 18-65 years, as a representative sample population of Croatia. After isolation of genomic DNA using commercial columns (QIAamp DNA Blood Mini Kit, Qiagen, Germany) or on the Magna Pure Compact (Roche Diagnostics Corp., USA) device, ABO genotypes were determined by the PCR-SSP method. Results: Twelve of 15 ABO genotypes were identifi ed. The most common was O1O1 (37.30%), followed by O1A1 (27.00%), O1B (15.80%), A1B (4.30%), A1A1 (4.00%), O1A2 (3.60%), O1O2 (2.60%), A1A2 (1.70%), O2A1 (1.70%), A2B (1.00%), BB (0.70%), and O2O2 (0.30%). Three rare ABO genotypes, A2A2, O2A2, and O2B, were not identifi ed. The calculated allele frequencies of the fi ve main alleles were as follows: O1, 0.620; O2, 0,025; A1, 0.21; A2, 0,035; and B, 0.11. In the Croatian population, O1 was found to be the most common allele, followed by A1 and B, while O2 allele was the least prevalent one. Conclusion: The distribution of alleles in Croatia is comparable to other European nations. According to the frequency of B allele, the Croatian population is comparable to Eastern Europe, probably due to migration of the population in the past. Results of ABO blood group genotyping have fundamental importance for research of the ABO system as a genetic risk factor for some diseases, as well as for anthropologic testing

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