RETROSPECTIVE ANALYSIS OF ALPHA GLOBIN COPY NUMBER VARIATIONS DETERMINED BY MLPA IN THE TRAKYA REGION

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dc.authoridatli, emine ikbal/0000-0001-9003-1449;
dc.authorwosidATLI, Engin/AAY-4641-2021
dc.authorwosidatli, emine ikbal/AAN-5060-2020
dc.authorwosidDemir, Selma/A-1500-2018
dc.contributor.authorDemir, Selma
dc.contributor.authorGurkan, Hakan
dc.contributor.authorEker, Damla
dc.contributor.authorYalcintepe, Sinem
dc.contributor.authorAtli, Emine Ikbal
dc.contributor.authorAtli, Engin
dc.date.accessioned2024-06-12T10:51:18Z
dc.date.available2024-06-12T10:51:18Z
dc.date.issued2021
dc.departmentTrakya Üniversitesien_US
dc.description.abstractObjective: Alpha thalassemia is a common type of hemoglobinopathy that occurs as a result of deletions or point mutations in the alpha globin gene cluster. The molecular analysis of alpha thalassemia is challenging due to the presence of genes with high sequence similarities in alpha globin gene clusters and pseudogenes. As well as in all genetic diseases, determining the causative mutation types of alpha thalassemia and their frequencies have critical importance for accurate genetic screening and prevention strategies. Material and Method: In our study, alpha globin copy number variations determined by the Multiplex Ligation-dependent Probe Amplifcation (MLPA) method were examined retrospectively with suspicion of alpha thalassemia in 35 female and 43 male patients tested in the Genetic Diseases Diagnosis Center of the Medical Genetics Department at Trakya University Faculty of Medicine. Results: The most common deletion among our patients was the -alpha(3.7) (35.3%), followed by the -alpha(20.5) (10.3%) deletion. The -dm deletion was detected in three patients while 4 out of 78 cases were found to have the -alpha(MED) deletion. In three patients, a heterozygous large deletion and in one case HS40 regulatory region deletion were detected. In 14 (18%) of the patients, alpha globin triplications were detected. The -alpha(4.2) deletion was detected in only one of our patients. Conclusion: Our study is the first to report the presence of eight different alpha globin copy number changes and 13 different alpha globin genotypes in the Trakya region.en_US
dc.identifier.doi10.26650/IUITFD.2021.880592
dc.identifier.endpage353en_US
dc.identifier.issn1305-6441
dc.identifier.issue3en_US
dc.identifier.scopus2-s2.0-85130394255en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage348en_US
dc.identifier.trdizinid454768en_US
dc.identifier.urihttps://doi.org/10.26650/IUITFD.2021.880592
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/454768
dc.identifier.urihttps://hdl.handle.net/20.500.14551/18308
dc.identifier.volume84en_US
dc.identifier.wosWOS:000689182700013en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.language.isoenen_US
dc.publisherIstanbul Univ, Fac Medicine, Publ Offen_US
dc.relation.ispartofJournal Of Istanbul Faculty Of Medicine-Istanbul Tip Fakultesi Dergisien_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectAlpha Thalassemiaen_US
dc.subjectGlobinen_US
dc.subjectCopy Number Variationen_US
dc.subjectDependent Probe Amplificationen_US
dc.subjectGene Triplicationen_US
dc.subjectThalassemia Mutationsen_US
dc.subjectBeta-Thalassemiaen_US
dc.subject1st Observationen_US
dc.subjectTurkeyen_US
dc.subjectFrequencyen_US
dc.subjectSpectrumen_US
dc.subjectDiseaseen_US
dc.titleRETROSPECTIVE ANALYSIS OF ALPHA GLOBIN COPY NUMBER VARIATIONS DETERMINED BY MLPA IN THE TRAKYA REGIONen_US
dc.typeArticleen_US

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