Molecular basis of ß-thalassemia in the population of the Aegean Region of Turkey: Identification of a novel deletion mutation

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dc.contributor.authorÖzkınay F.
dc.contributor.authorOnay H.
dc.contributor.authorKaraca E.
dc.contributor.authorArslan E.
dc.contributor.authorErturk B.
dc.contributor.authorEce Solmaz A.
dc.contributor.authorTekin I.M.
dc.contributor.authorCogulu O.
dc.contributor.authorAydinok Y.
dc.contributor.authorVergin C.
dc.date.accessioned2019-10-27T08:21:17Z
dc.date.available2019-10-27T08:21:17Z
dc.date.issued2015
dc.departmentEge Üniversitesien_US
dc.description.abstractß-Thalassemia (ß-thal) is the most common monogenic disorder in Turkey. The aim of this study was to investigate the spectrum of ß-thal mutations in the Aegean region of Turkey. The data was derived from 1171 unrelated ß-thal subjects, detected in a regional reference hospital between November 2004 and December 2013. Screening for the 22 common mutations was performed using the polymerase chain reaction (PCR)-reverse dot-blot method, and direct automated DNA sequencing for the unknown samples. Thirty-one different ß-thal alleles were identified. Seven mutations, namely IVS-I-110 (G > A) (41.7%), IVS-I-1 (G > A) (8.9%), IVS-II-745 (C > G) (8.6%), codon 8 (-AA) (7.7%), IVS-II-1 (G > A) (7.2%), IVS-I-6 (T > C) (6.6%), codon 39 (C > T) (4.6%) accounted for 85.3% of the mutated alleles. Frequencies of the remaining 24 ß-thal mutations were less than 2.2%; these included one novel mutation [HBB: c.206-212del (p.Leu69Profs*19)], and four others [-56 (G > C), codon 16 (-C), IVS-I (-3) (C > T) (codon 29), codon 76 (-C)] found in Turkey for the first time. The results will help to prevent severe ß-thal through genetic counseling and prenatal diagnosis (PND) in the Aegean region of Turkey. © 2015 Informa Healthcare USA, Inc.en_US
dc.identifier.doi10.3109/03630269.2015.1038354en_US
dc.identifier.endpage234en_US
dc.identifier.issn0363-0269
dc.identifier.issue4en_US
dc.identifier.pmid26076395en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage230en_US
dc.identifier.urihttps://doi.org/10.3109/03630269.2015.1038354
dc.identifier.urihttps://hdl.handle.net/11454/25975
dc.identifier.volume39en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherTaylor and Francis Ltden_US
dc.relation.ispartofHemoglobinen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectmutation spectrumen_US
dc.subjectthalassemiasen_US
dc.subjectß-globin geneen_US
dc.subjectß-Thalassemia (ß-thal)en_US
dc.titleMolecular basis of ß-thalassemia in the population of the Aegean Region of Turkey: Identification of a novel deletion mutationen_US
dc.typeArticleen_US

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