Beta globin mutations in Turkish, northern Iraqi and albanian patients with beta thalassemia major

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dc.authoridVeysel Sabri Hançer / 0000-0003-2994-1077
dc.authoridCeyhun Bozkurt / 0000-0001-6771-9894
dc.authoridMurat Büyükdoğan / 0000-0001-7948-0235
dc.authorscopusidVeysel Sabri Hançer / 6506533543
dc.authorscopusidMurat Büyükdoğan / 35247676100
dc.authorscopusidCeyhun Bozkurt / 6602784315
dc.authorwosidVeysel Sabri Hançer / X-8971-2018
dc.authorwosidCeyhun Bozkurt / AAL-5043-2021
dc.authorwosidMurat Büyükdoğan / Y-2855-2018
dc.contributor.authorHançer, Veysel Sabri
dc.contributor.authorFışgın, Tunç
dc.contributor.authorBüyükdoğan, Murat
dc.contributor.authorBozkurt, Ceyhun
dc.contributor.authorLako, Sotiraq
dc.date.accessioned2020-08-30T20:07:28Z
dc.date.available2020-08-30T20:07:28Z
dc.date.issued2018
dc.departmentİstinye Üniversitesi, Tıp Fakültesi, Temel Tıp Bilimleri Bölümüen_US
dc.description.abstractThe mutation detection of beta thalassemia is absolutely necessary for molecular diagnosis, as well as any genetic epidemiological study. The b globin gene has 3 exons and 2 introns, involved in beta-thalassemic pathogenesis. The study aim of the study is to characterize the spectrum of b globin gene mutations in 136 Turkish, Northern Iraqi and Albanian pediatric beta thalassemia major patients. After genomic DNA extraction from venous blood and amplification of the target DNA regions with PCR, genotyping was achieved by Sanger based DNA sequencing. The IVSI-110 G>A mutation was the most frequent allele in the Turkish and Albanian patients. In Northern Iraqi patients IVSI-1 G>A was is the most frequent. There are two mutations are firstly reported for Albania [c.*111 A>G 3' UTR (rs63751128) and c.113 G>A (p.Trp38Ter, p.W38*) (rs35887507)] with this study. These findings may be of value for genetic counseling, premarital diagnosis, prenatal diagnosis and prevention programs.en_US
dc.identifier.citationHancer, V. S., Fisgin, T., Buyukdogan, M., Bozkurt, C., & Lako, S. (2018). beta globin mutations in Turkish, Northern Iraqi and Albanian patients with beta thalassemia major. THALASSEMIA REPORTS, 8(2), 97–100. https://doi.org/10.4081/thal.2018.7286en_US
dc.identifier.doi10.4081/thal.2018.7286en_US
dc.identifier.endpage100en_US
dc.identifier.issn2039-4357en_US
dc.identifier.issn2039-4365en_US
dc.identifier.issue2en_US
dc.identifier.startpage97en_US
dc.identifier.urihttps://doi.org/10.4081/thal.2018.7286
dc.identifier.urihttps://hdl.handle.net/20.500.12713/771
dc.identifier.volume8en_US
dc.identifier.wosWOS:000465470600001en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.institutionauthorHançer, Veysel Sabrien_US
dc.institutionauthorBüyükdoğan, Muraten_US
dc.institutionauthorBozkurt, Ceyhunen_US
dc.language.isoenen_US
dc.publisherPagepress Publen_US
dc.relation.ispartofThalassemia Reportsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectBeta Globin Mutationsen_US
dc.subjectThalassemia Majoren_US
dc.subjectTurkeyen_US
dc.subjectNorthern Iraqen_US
dc.subjectAlbaniaen_US
dc.titleBeta globin mutations in Turkish, northern Iraqi and albanian patients with beta thalassemia majoren_US
dc.typeArticleen_US

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