Investigation of alpha globin gene mutations by complementary methods in Antalya

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dc.authorscopusid6701531346
dc.authorscopusid57221862142
dc.authorscopusid9242258800
dc.authorscopusid57196404683
dc.authorscopusid36614999500
dc.authorscopusid6701448163
dc.contributor.authorKeser, İbrahim
dc.contributor.authorMercan, T.K.
dc.contributor.authorBilgen, Türker
dc.contributor.authorKupesiz, O.A.
dc.contributor.authorArikan, Y.
dc.contributor.authorCanatan, D.
dc.date.accessioned2022-05-11T14:48:20Z
dc.date.available2022-05-11T14:48:20Z
dc.date.issued2021
dc.departmentRektörlüğe Bağlı Bölümler, Rektörlük, Bilimsel ve Teknolojik Araştırmalar Uygulama ve Araştırma Merkezi
dc.description.abstractAlpha (?) thalassemia is one of the hemoglobinopaties that is inherited by autosomal recessive mode. It is caused by mutations on alpha-1 and alpha-2 globin genes. Deletional type mutations of globin genes have commonly been seen in alpha thalassemias. While small deletional mutations such as-3.7 cause ?+-thalassemia, large deletions such as-26.5-20.5 cause ?0-thalassemia. The objective of our study was to determine the profile of deletional and non-deletional ?-globin gene mutations in the Antalya population, Turkey. In present study, the presence of ?-thalassemia mutations were investigated by RDBH (reverse dot blot hybridization) among 250 patients with microcytic anemia and beta globin normal. Some positive and negative cases were confirmed by MLPA (multiplex ligation dependent probe amplification) and at the latest DNA sequencing. Eight different mutations were determined in 112 (44.8%) of patients in our study. The-??3.7 deletion was the most common mutation(73.3%). Others common mutations were the – ?20.5 (13.0%) and –MED (6.5%),--FIL (2.4%), Hb Adana (2.4%). The 97.5 % of total mutations consisted of these five mutations. Three patients with Hb H disease were found related with-? 3.7 /-(?)-20.5 genotype. One patient (2.04%) had the ??? anti-3.7 gene triplication. Two rare mutations, ?2 codon 64 (G>C) (Hb Fontainebleau) and ?2 codon 193 (G>A) (Hb G-Waimanalo), were determined by DNA sequencing firstly in Antalya Province, Turkey. Our results may be valuable to give accurate premarital genetic counseling and to apply classical prenatal and preimplantation genetic diagnosis by the complementary methods such as RDBH, MLPA and DNA sequencing for the screening of alpha thalassemia carriers. © 2021, Yuzuncu Yil Universitesi Tip Fakultesi. All rights reserved.
dc.identifier.doi10.5505/ejm.2021.04796
dc.identifier.endpage122
dc.identifier.issn1301-0883
dc.identifier.issue1en_US
dc.identifier.scopus2-s2.0-85100453320
dc.identifier.scopusqualityQ4
dc.identifier.startpage117
dc.identifier.urihttps://doi.org/10.5505/ejm.2021.04796
dc.identifier.urihttps://hdl.handle.net/20.500.11776/10627
dc.identifier.volume26
dc.indekslendigikaynakScopus
dc.institutionauthorBilgen, Türker
dc.language.isoen
dc.publisherYuzuncu Yil Universitesi Tip Fakultesi
dc.relation.ispartofEastern Journal of Medicine
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectAlpha globin gene
dc.subjectAlpha thalassemia
dc.subjectDNA sequencing
dc.subjectMLPA
dc.subjectMutation
dc.subjectRDBH
dc.subjecthemoglobin alpha chain
dc.subjecthemoglobin beta chain
dc.subjectalpha thalassemia
dc.subjectArticle
dc.subjectDNA extraction
dc.subjectDNA isolation
dc.subjectDNA sequencing
dc.subjectdot hybridization
dc.subjectenzyme linked immunosorbent assay
dc.subjectgene
dc.subjectgene deletion
dc.subjectgene mutation
dc.subjectgenetic counseling
dc.subjectgenotype
dc.subjectglobin gene
dc.subjecthaplotype
dc.subjectHBA1 gene
dc.subjectHBA2 gene
dc.subjecthuman
dc.subjectmultiplex ligation dependent probe amplification
dc.subjectmultiplex polymerase chain reaction
dc.subjectpolymerase chain reaction
dc.subjectreverse dot blot hybridization
dc.subjectsingle nucleotide polymorphism
dc.titleInvestigation of alpha globin gene mutations by complementary methods in Antalya
dc.typeArticle

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