Bilgen, TürkerClark, Özden AltıokÖztürk, ZeynepYesilipek, M. AkifKeser, İbrahim2022-05-112022-05-1120161300-77771308-5263https://doi.org/10.4274/tjh.2014.0242https://hdl.handle.net/20.500.11776/10605Objective: Although the calculated carrier frequency for point mutations of the beta-globin gene is around 10% for Antalya Province, nothing is known about the profile of large deletional mutations involving the beta-globin gene. In this study, we aimed to screen common deletional mutations in the beta-globin gene cluster in patients for whom direct DNA sequencing was not able to demonstrate the mutation(s) responsible for the disease phenotype. Materials and Methods: Thirty-one index cases selected with a series of selection events among 60 cases without detected beta-globin gene mutation from 580 thalassemia-related cases tested by direct sequencing over the last 4 years in our diagnostic center were screened for the most common 8 different large deletional mutations of the beta-globin gene cluster by gap-PCR. Results: We detected 1 homozygous and 9 heterozygous novel unrelated cases for the Turkish inversion/deletion (delta beta)(0) mutation in our series of 31 cases. Our study showed that the Turkish inversion/deletion (delta beta)(0) mutation per se accounts for 16.6% of the unidentified causative alleles and also accounts for 1.5% of all detected mutations over the last 4 years in our laboratory. Conclusion: Since molecular diagnosis of deletional mutations in the beta-globin gene cluster warrants different approaches, it deserves special attention in order to provide prenatal diagnosis and prevention opportunities to the families involved. We conclude that the Turkish inversion/deletion (delta beta)(0), as the most prevalent deletional mutation detected so far, has to be routinely tested for in Antalya, and the gap-PCR approach has valuable diagnostic potential in the patients at risk.en10.4274/tjh.2014.0242info:eu-repo/semantics/openAccessDeletional mutationsTurkish inversion/deletion (delta beta)(0) mutationGap-PCRbeta-Globin gene clusterDependent Probe AmplificationMolecular CharacterizationPrenatal-DiagnosisFetal-HemoglobinThalassemiaIdentificationPopulationFamilyTurkeyArticle332107111Q4WOS:0003849783000042-s2.0-8496883196126377447Q3