Gap-PCR Screening for Common Large Deletional Mutations of beta-Globin Gene Cluster Revealed a Higher Prevalence of the Turkish Inversion/Deletion (delta beta)(0) Mutation in Antalya

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dc.authorid0000-0002-5321-0701
dc.authorid0000-0002-3015-0929
dc.authorscopusid9242258800
dc.authorscopusid55968720300
dc.authorscopusid56573734200
dc.authorscopusid8327807300
dc.authorscopusid6701531346
dc.authorwosidKeser, Ibrahim/I-7702-2017
dc.authorwosidÖztürk, Zeynep/T-3945-2019
dc.authorwosidAltiok Clark, Ozden/C-7746-2016
dc.authorwosidBilgen, Turker/N-6376-2018
dc.contributor.authorBilgen, Türker
dc.contributor.authorClark, Özden Altıok
dc.contributor.authorÖztürk, Zeynep
dc.contributor.authorYesilipek, M. Akif
dc.contributor.authorKeser, İbrahim
dc.date.accessioned2022-05-11T14:48:09Z
dc.date.available2022-05-11T14:48:09Z
dc.date.issued2016
dc.departmentRektörlüğe Bağlı Bölümler, Rektörlük, Bilimsel ve Teknolojik Araştırmalar Uygulama ve Araştırma Merkezi
dc.description.abstractObjective: 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.
dc.identifier.doi10.4274/tjh.2014.0242
dc.identifier.endpage111
dc.identifier.issn1300-7777
dc.identifier.issn1308-5263
dc.identifier.issue2en_US
dc.identifier.pmid26377447
dc.identifier.scopus2-s2.0-84968831961
dc.identifier.scopusqualityQ3
dc.identifier.startpage107
dc.identifier.urihttps://doi.org/10.4274/tjh.2014.0242
dc.identifier.urihttps://hdl.handle.net/20.500.11776/10605
dc.identifier.volume33
dc.identifier.wosWOS:000384978300004
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorBilgen, Türker
dc.language.isoen
dc.publisherGalenos Yayincilik
dc.relation.ispartofTurkish Journal of Hematology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectDeletional mutations
dc.subjectTurkish inversion/deletion (delta beta)(0) mutation
dc.subjectGap-PCR
dc.subjectbeta-Globin gene cluster
dc.subjectDependent Probe Amplification
dc.subjectMolecular Characterization
dc.subjectPrenatal-Diagnosis
dc.subjectFetal-Hemoglobin
dc.subjectThalassemia
dc.subjectIdentification
dc.subjectPopulation
dc.subjectFamily
dc.subjectTurkey
dc.titleGap-PCR Screening for Common Large Deletional Mutations of beta-Globin Gene Cluster Revealed a Higher Prevalence of the Turkish Inversion/Deletion (delta beta)(0) Mutation in Antalya
dc.title.alternative?-Globin gen kümesini ıçine alan büyük delesyonel mutasyonların Gap-PCR ile taranması türk tipi ınversiyon/delesyon (??)0 mutasyonunun antalya'da yüksek sıklıkta olduğunu gösterdi]
dc.typeArticle

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